ClinVar Miner

List of variants in gene ANO5 reported as likely benign for Miyoshi myopathy

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Total variants: 12
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HGVS dbSNP
NM_213599.2(ANO5):c.*1286G>T rs7925081
NM_213599.2(ANO5):c.*1313A>G rs73483432
NM_213599.2(ANO5):c.*1429A>G rs78143145
NM_213599.2(ANO5):c.*1521T>C rs73483433
NM_213599.2(ANO5):c.*1762delA rs398015552
NM_213599.2(ANO5):c.*1894_*1897delAAGA rs397786204
NM_213599.2(ANO5):c.*3152G>A rs79486036
NM_213599.2(ANO5):c.*3481dupT rs147581685
NM_213599.2(ANO5):c.*496A>G rs10766930
NM_213599.2(ANO5):c.-217G>T rs73479393
NM_213599.2(ANO5):c.364-8del rs146983312
NM_213599.2(ANO5):c.966A>T (p.Leu322Phe) rs7481951

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