ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 3 by OMIM

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.10573del (p.Ser3525fs) rs1270302810 0.00004
NM_016239.4(MYO15A):c.3756+1G>T rs748108031 0.00003
NM_016239.4(MYO15A):c.3313G>T (p.Glu1105Ter) rs121908971
NM_016239.4(MYO15A):c.3336del (p.Arg1113fs) rs769884586
NM_016239.4(MYO15A):c.3685C>T (p.Gln1229Ter) rs121908968
NM_016239.4(MYO15A):c.5492G>T (p.Gly1831Val) rs121908972
NM_016239.4(MYO15A):c.6331A>T (p.Asn2111Tyr) rs121908966
NM_016239.4(MYO15A):c.6337A>T (p.Ile2113Phe) rs121908965
NM_016239.4(MYO15A):c.7801A>T (p.Lys2601Ter) rs121908967
NM_016239.4(MYO15A):c.8148G>T (p.Gln2716His) rs121908969
NM_016239.4(MYO15A):c.8968-1G>C rs746051220
NM_016239.4(MYO15A):c.9958_9961del (p.Asp3320fs) rs1567664131

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