ClinVar Miner

List of variants studied for autosomal dominant nonsyndromic hearing loss by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (118):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000260.4(MYO7A):c.1258A>T (p.Lys420Ter) rs782539587 0.00002
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys) rs80338829
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn) rs80338831
NM_002473.6(MYH9):c.5521G>A (p.Glu1841Lys) rs80338834
NM_006005.3(WFS1):c.1636G>A (p.Val546Ile)
NM_177398.4(LMX1A):c.317T>G (p.Phe106Cys)

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