Database Statitics: Number of Variants by Gene
| No. |
Gene Symbol / ID / Name |
No. of Variant |
Graph |
| 1. |
ABCD1 (15): ATP-binding cassette, sub-family D (ALD), member 1
- c.871G>A
- c.8765C>A
- c.DNA VariantName
|
3 |
|
| 2. |
AIRE (76): autoimmune regulator (autoimmune polyendocrinopathy candidiasis ectodermal dystrophy)
|
1 |
|
| 3. |
AQP2 (45): aquaporin 2 (collecting duct)
|
2 |
|
| 4. |
AR (85): androgen receptor (dihydrotestosterone receptor; testicular feminization; spinal and bulbar muscular atrophy; Kennedy disease)
|
1 |
|
| 5. |
ATP7B (70): ATPase, Cu++ transporting, beta polypeptide (Wilson disease)
|
1 |
|
| 6. |
AVPR2 (44): arginine vasopressin receptor 2 (nephrogenic diabetes insipidus)
|
2 |
|
| 7. |
BRCA1 (14): breast cancer 1, early onset
- c.5195-?_5277+?del
- c.81-?_134+?del
- c.FILLER>A
|
3 |
|
| 8. |
BRCA2 (18): breast cancer 2, early onset
|
1 |
|
| 9. |
CCT (20): cataract, congenital, total
|
1 |
|
| 10. |
CCT2 (21): chaperonin containing TCP1, subunit 2 (beta)
|
1 |
|
| 11. |
CFTR (40): cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)
|
1 |
|
| 12. |
CLCN1 (84): chloride channel 1, skeletal muscle (Thomsen disease, autosomal dominant)
|
2 |
|
| 13. |
CRBN (96): cereblon
|
2 |
|
| 14. |
DHCR7 (59): 7-dehydrocholesterol reductase
|
1 |
|
| 15. |
DIP2A (16): DIP2 disco-interacting protein 2 homolog A (Drosophila)
|
2 |
|
| 16. |
F8 (66): coagulation factor VIII, procoagulant component (hemophilia A)
|
1 |
|
| 17. |
F9 (92): coagulation factor IX (plasma thromboplastic component, Christmas disease, hemophilia B)
|
1 |
|
| 18. |
FBN1 (48): fibrillin 1 (Marfan syndrome)
|
1 |
|
| 19. |
FMO3 (47): flavin containing monooxygenase 3
|
1 |
|
| 20. |
HS1BP3 (95): HS1 binding protein 3
|
2 |
|
| 21. |
IDS (29): iduronate 2-sulfatase (Hunter syndrome)
- c.1106C>A
- c.236delC
- c.418+3A>T
|
3 |
|
| 22. |
IGHMBP2 (26): immunoglobulin mu binding protein 2
|
1 |
|
| 23. |
IL2RA (32): interleukin 2 receptor, alpha
|
1 |
|
| 24. |
LPL (61): lipoprotein lipase
|
1 |
|
| 25. |
LSP1 (103): lymphocyte-specific protein 1
|
1 |
|
| 26. |
MAP3K1 (102): mitogen-activated protein kinase kinase kinase 1
|
1 |
|
| 27. |
MECP2 (17): methyl CpG binding protein 2 (Rett syndrome)
|
1 |
|
| 28. |
MLH1 (38): mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
- c.123T>G var name
- c.394G>C
|
2 |
|
| 29. |
NDP (10): Norrie disease (pseudoglioma)
- c.1-207-?_174+?del2
- c.220C>T
- c.302C>T
- c.308T>G
|
4 |
|
| 30. |
NOS1 (56): nitric oxide synthase 1 (neuronal)
- g.5337(GT)14-24
- g.5337(GT)14-24
- g.5337(GT)14-24
|
3 |
|
| 31. |
PAH (8): phenylalanine hydroxylase
- c.VariantNameTest
- p.Testing Variant Name
|
2 |
|
| 32. |
PRKCG (75): protein kinase C, gamma
|
1 |
|
| 33. |
RET (22): ret proto-oncogene (multiple endocrine neoplasia and medullary thyroid carcinoma 1, Hirschsprung disease)
- g.14985G>T (+) g.14986A>G
|
1 |
|
| 34. |
SMN1 (99): survival of motor neuron 1, telomeric
|
1 |
|
| 35. |
SMPD1 (49): sphingomyelin phosphodiesterase 1, acid lysosomal (acid sphingomyelinase)
- c.1784_1786delTT
- c.626 T>G
|
2 |
|
| 36. |
SOD2 (19): superoxide dismutase 2, mitochondrial
|
1 |
|
| 37. |
STAT6 (28): signal transducer and activator of transcription 6, interleukin-4 induced
- g.1808(GT)10-18
- g.1808(GT)10-18
|
2 |
|
| 38. |
TOX3 (101): TOX high mobility group box family member 3
|
1 |
|
| 39. |
VWF (98): von Willebrand factor
|
1 |
|
