ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_213599.3(ANO5):c.2272C>T (p.Arg758Cys) rs137854529 0.00049
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile) rs375014127 0.00015
NM_213599.3(ANO5):c.2498T>A (p.Met833Lys) rs142073798 0.00014
NM_213599.3(ANO5):c.1733T>C (p.Phe578Ser) rs137854526 0.00010
NM_213599.2(ANO5):c.[155A>G];[191dupA]
NM_213599.3(ANO5):c.2286C>G (p.Tyr762Ter)
NM_213599.3(ANO5):c.[1520del];[155A>G]

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