ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 3 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.6764+2T>A rs763975867 0.00009
NM_016239.4(MYO15A):c.4777G>A (p.Glu1593Lys) rs376469502 0.00008
NM_016239.4(MYO15A):c.6046+1G>A rs201978571 0.00005
NM_016239.4(MYO15A):c.10491+2T>C rs1390498839 0.00001
NM_016239.4(MYO15A):c.4351G>A (p.Asp1451Asn) rs767270134 0.00001
NM_016239.4(MYO15A):c.10247CCT[1] (p.Ser3417del) rs760069953
NM_016239.4(MYO15A):c.1137del (p.Tyr380fs) rs769260536
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs) rs772536599
NM_016239.4(MYO15A):c.5461del (p.Val1821fs) rs764867438
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs) rs780170125
NM_016239.4(MYO15A):c.8162C>A (p.Thr2721Lys) rs1288328459
NM_016239.4(MYO15A):c.9371dup (p.Asn3124fs) rs2046752611

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