ClinVar Miner

List of variants reported as likely pathogenic for autosomal dominant nonsyndromic hearing loss 36

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_138691.3(TMC1):c.1763+3A>G rs370898981 0.00056
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys) rs372710475 0.00005
NM_138691.3(TMC1):c.150del (p.Asn50fs) rs2132189585
NM_138691.3(TMC1):c.1714G>A (p.Asp572Asn) rs121908072
NM_206933.4(USH2A):c.10724G>T (p.Cys3575Phe)
NM_206933.4(USH2A):c.7120+1475A>G

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