ClinVar Miner

List of variants studied for Autosomal recessive nonsyndromic hearing loss 3 by WangQJ Lab, Chinese People's Liberation Army General Hospital

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.5977C>T (p.Arg1993Trp) rs759663463 0.00004
NM_016239.4(MYO15A):c.2017G>A (p.Gly673Arg) rs1462012083 0.00002
NM_016239.4(MYO15A):c.10183C>T (p.Leu3395Phe) rs952306971
NM_016239.4(MYO15A):c.10360_10362del (p.Val3454del) rs2142436001
NM_016239.4(MYO15A):c.3435del (p.Lys1146fs) rs2142262660
NM_016239.4(MYO15A):c.4190C>A (p.Ser1397Tyr) rs1003360290
NM_016239.4(MYO15A):c.7711_7712dup (p.Gln2571fs) rs1267868260
NM_016239.4(MYO15A):c.8681T>C (p.Ile2894Thr) rs2142386490
NM_016239.4(MYO15A):c.9888_9898delinsTCGGGGGG (p.Leu3297_Gln3300delinsArgGlyGlu) rs2142413074

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