ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 3 by Center for Statistical Genetics, Columbia University

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.4108C>T (p.Arg1370Cys) rs878854411 0.00002
NM_016239.4(MYO15A):c.3944G>A (p.Gly1315Glu) rs878854410
NM_016239.4(MYO15A):c.4780G>C (p.Asp1594His) rs878854412
NM_016239.4(MYO15A):c.5335del (p.Leu1779fs) rs878854413
NM_016239.4(MYO15A):c.5809C>T (p.Arg1937Cys) rs749465098
NM_016239.4(MYO15A):c.6146C>A (p.Pro2049His) rs878854414
NM_016239.4(MYO15A):c.6178-2A>G rs878854415
NM_016239.4(MYO15A):c.6589C>T (p.Gln2197Ter) rs779445819
NM_016239.4(MYO15A):c.742C>G (p.Arg248Gly) rs878854409

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