ClinVar Miner

List of variants reported as uncertain significance for auditory system disease by OMIM

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg) rs4253208
NM_000260.4(MYO7A):c.3260T>C (p.Leu1087Pro) rs375050157
NM_001031834.1(RAB40AL):c.176A>G (p.Asp59Gly) rs145606134
NM_005379.4(MYO1A):c.1155G>T (p.Glu385Asp) rs61753849
NM_005379.4(MYO1A):c.1985G>A (p.Gly662Glu) rs33962952
NM_005379.4(MYO1A):c.2728T>C (p.Ser910Pro) rs121909306
NM_005379.4(MYO1A):c.277C>T (p.Arg93Ter) rs121909305
NM_005379.4(MYO1A):c.347_349dup (p.Ser116dup) rs864309476
NM_005379.4(MYO1A):c.916G>A (p.Val306Met) rs55679042
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314
NM_153676.4(USH1C):c.388G>A (p.Val130Ile) rs55843567
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464
NM_198999.3(SLC26A5):c.-53-2A>G rs116900495

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