ClinVar Miner

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

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Total variants: 9
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HGVS dbSNP
NM_213599.2(ANO5):c.1261C>T (p.Gln421Ter) rs1554930314
NM_213599.2(ANO5):c.1639C>T (p.Arg547Ter) rs747719953
NM_213599.2(ANO5):c.172C>T (p.Arg58Trp) rs201725369
NM_213599.2(ANO5):c.1733T>C (p.Phe578Ser) rs137854526
NM_213599.2(ANO5):c.1767C>A (p.Tyr589Ter) rs188150039
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.352del (p.Glu118fs) rs878854367
NM_213599.2(ANO5):c.649-2A>G rs773736505
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523

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