ClinVar Miner

List of variants in gene LOC107988030, MITF studied for Waardenburg syndrome

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001354604.2(MITF):c.355-1135G>A rs77588960 0.01433
NM_001354604.2(MITF):c.355-1113C>T rs199515469 0.00041
NM_001354604.2(MITF):c.355-1219G>A rs995608975 0.00001
NM_000248.4(MITF):c.3G>A (p.Met1Ile)

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