ClinVar Miner

List of variants in gene ANO5 studied for Autosomal recessive limb-girdle muscular dystrophy type 2L; Miyoshi muscular dystrophy 3

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.1640G>A (p.Arg547Gln) rs139618850 0.00015
NM_213599.3(ANO5):c.1103C>T (p.Thr368Met) rs760792371 0.00001
NM_213599.3(ANO5):c.1965G>C (p.Trp655Cys) rs760137559 0.00001
NM_213599.2(ANO5):c.[155A>G];[191dupA]
NM_213599.3(ANO5):c.1158del (p.Phe386fs) rs1564936489
NM_213599.3(ANO5):c.1359C>G (p.Tyr453Ter) rs754889480
NM_213599.3(ANO5):c.1418_1421delinsGGACGACACCAGTGACGA (p.Val473fs)
NM_213599.3(ANO5):c.1777_1780del (p.Phe593fs)

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