ClinVar Miner

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

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.10350+6T>C rs2142431211
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.3904del (p.Met1302fs) rs2142282007
NM_016239.4(MYO15A):c.4195A>T (p.Ile1399Phe) rs2142300755
NM_016239.4(MYO15A):c.4461C>A (p.Asn1487Lys) rs201076604
NM_016239.4(MYO15A):c.4482+2T>C rs2142307505
NM_016239.4(MYO15A):c.4538C>T (p.Ala1513Val) rs2142315607
NM_016239.4(MYO15A):c.4596+2_4596+3del rs2142315894
NM_016239.4(MYO15A):c.5095T>G (p.Phe1699Val) rs2142328605
NM_016239.4(MYO15A):c.5193_5194insACAG (p.Val1732fs) rs2142330998
NM_016239.4(MYO15A):c.5683G>A (p.Glu1895Lys) rs2142341062
NM_016239.4(MYO15A):c.5835T>G (p.Tyr1945Ter) rs2142343642
NM_016239.4(MYO15A):c.6045A>T (p.Ala2015=) rs2142347739
NM_016239.4(MYO15A):c.6551_6552del (p.Cys2184fs) rs2142360575
NM_016239.4(MYO15A):c.6898A>T (p.Lys2300Ter) rs2142363296
NM_016239.4(MYO15A):c.7654+1G>A rs1338603862
NM_016239.4(MYO15A):c.8474T>C (p.Leu2825Pro) rs2142384242
NM_016239.4(MYO15A):c.9482A>C (p.Gln3161Pro) rs2142399231
NM_016239.4(MYO15A):c.9690+1G>A rs2142404134
NM_016239.4(MYO15A):c.9820T>C (p.Tyr3274His) rs2142412720
NM_016239.4(MYO15A):c.9941del (p.Tyr3314fs) rs2142413310

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