MITF, melanocyte inducing transcription factor, 4286
N. diseases: 25; N. variants: 24
Source: CLINVAR ×
| Variant | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Disease Class | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 3 | 69959310 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 0 | 1995 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 69964880 | missense variant | T/C | snv | 2.4E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.800 | 1.000 | 0 | 1995 | 2017 | ||||||
|
0.672 | 0.560 | 3 | 69964940 | missense variant | G/A | snv | 1.4E-03 | 1.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 5 | 2011 | 2016 | ||||||
|
0.925 | 0.160 | 3 | 69959325 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 3 | 69939164 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.851 | 0.120 | 3 | 69956460 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 69951870 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 69956469 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 69956454 | splice acceptor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 69956496 | stop gained | G/A;T | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||
|
1.000 | 0.040 | 3 | 69936756 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 69941299 | missense variant | TT/CC | mnv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 69949049 | splice acceptor variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.280 | 3 | 69951856 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 69951884 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 69956534 | splice region variant | A/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 69959386 | frameshift variant | A/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.925 | 0.040 | 3 | 69956531 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
0.882 | 0.280 | 3 | 69959280 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 3 | 69964874 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities | 0.700 | 0 |