ClinVar Miner

List of variants studied for nonsyndromic genetic hearing loss by Molecular Genetics Laboratory; Baylor College of Medicine

Included ClinVar conditions (249):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000441.2(SLC26A4):c.691G>C (p.Val231Leu) rs483353047
NM_000441.2(SLC26A4):c.765+3A>C rs483353048
NM_194248.3(OTOF):c.1172del (p.Lys391fs) rs483353050
NM_194248.3(OTOF):c.897+1G>T rs483353049

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