ClinVar Miner

List of variants in gene MYO15A reported as pathogenic by Laboratory of Prof. Karen Avraham, Tel Aviv University

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_016239.4(MYO15A):c.8090T>C (p.Val2697Ala) rs200451098 0.00013
NM_016239.4(MYO15A):c.8183G>A (p.Arg2728His) rs184435771 0.00011
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=) rs372466080 0.00011
NM_016239.4(MYO15A):c.8050T>C (p.Tyr2684His) rs376351191 0.00007
NM_016239.4(MYO15A):c.4642G>A (p.Ala1548Thr) rs201067821 0.00002
NM_016239.4(MYO15A):c.8340G>A (p.Thr2780=) rs878853228 0.00001
NC_000017.1:g.18054799_18058246delinsCTCCCCGGAACGGCTGCTGGTAC
NM_016239.3(MYO15A):c.[373_374delCG];[8183G>A]
NM_016239.4(MYO15A):c.10585del (p.Leu3529fs) rs2047052213
NM_016239.4(MYO15A):c.4571dup (p.Lys1525fs) rs2046256329
NM_016239.4(MYO15A):c.6340G>A (p.Val2114Met) rs377385081
NM_016239.4(MYO15A):c.7207G>T (p.Asp2403Tyr) rs878853227
NM_016239.4(MYO15A):c.8467G>A (p.Asp2823Asn) rs878853238
NM_016239.4(MYO15A):c.8897_8900dup (p.Ala2968fs) rs2046704290
NM_016239.4(MYO15A):c.9083+6T>A rs1555547112

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