ClinVar Miner

List of variants reported as pathogenic for Autosomal recessive nonsyndromic hearing loss 3 by Deafness Molecular Diagnostic Center, Chinese PLA General Hospital

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.10419_10423del (p.Ser3474fs) rs2142436425
NM_016239.4(MYO15A):c.10538_10544del (p.Leu3513fs) rs2142451116
NM_016239.4(MYO15A):c.1661del (p.Gly554fs) rs1245338270
NM_016239.4(MYO15A):c.212del (p.Lys71fs) rs2142236554
NM_016239.4(MYO15A):c.2266_2272dup (p.Pro758fs) rs2142253567
NM_016239.4(MYO15A):c.3693-2A>G rs2142274411
NM_016239.4(MYO15A):c.4596+2_4596+3del rs2142315894
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) rs2142330998
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) rs2142363296
NM_016239.4(MYO15A):c.7654+1G>A rs1338603862
NM_016239.4(MYO15A):c.9690+1G>A rs2142404134
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs) rs2142413310

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