ClinVar Miner

List of variants in gene ANO5 reported as uncertain significance for Limb-girdle muscular dystrophy, type 2L

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Total variants: 4
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HGVS dbSNP
NM_213599.2(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.2636T>C (p.Phe879Ser) rs1459697236
NM_213599.2(ANO5):c.749A>G (p.Tyr250Cys) rs781734224

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