ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 3 by National Institute on Deafness and Communication Disorders, National Institutes of Health

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.3505C>T (p.Arg1169Ter) rs781546107 0.00001
NM_016239.4(MYO15A):c.10572dup (p.Ser3525fs) rs1057519607
NM_016239.4(MYO15A):c.3932T>C (p.Ile1311Thr) rs1057519603
NM_016239.4(MYO15A):c.4528C>T (p.Gln1510Ter) rs779077039
NM_016239.4(MYO15A):c.4570C>T (p.Gln1524Ter) rs1209665716
NM_016239.4(MYO15A):c.5005C>T (p.Gln1669Ter) rs1567641234
NM_016239.4(MYO15A):c.6178-2A>G rs878854415
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.6944del (p.Gly2315fs) rs1057519604
NM_016239.4(MYO15A):c.8224+3A>G rs1057519605
NM_016239.4(MYO15A):c.9229+2T>C rs1057519606

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