ClinVar Miner

List of variants in gene ANO5 studied for Miyoshi muscular dystrophy 3

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Total variants: 4
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HGVS dbSNP
ANO5, IVS14DS, G-A, +5
NM_213599.2(ANO5):c.1693_1715del (p.Phe565fs) rs1554931773
NM_213599.2(ANO5):c.191dupA rs137854521
NM_213599.2(ANO5):c.2272C>T (p.Arg758Cys) rs137854529

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