ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 3 by Laboratory of Molecular Genetics, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_016239.4(MYO15A):c.1185dup (p.Glu396fs)	rs772536599
NM_016239.4(MYO15A):c.4879G>T (p.Glu1627Ter)	rs1597787868
NM_016239.4(MYO15A):c.[1185dup];[4879G>T]

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