ClinVar Miner

List of variants in gene ACTN2 reported as pathogenic

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Total variants: 9
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HGVS dbSNP
NM_001103.3(ACTN2):c.1484C>T (p.Thr495Met) rs200248944
NM_001103.3(ACTN2):c.1883A>G (p.Glu628Gly) rs786204951
NM_001103.3(ACTN2):c.2276G>C (p.Arg759Thr) rs786204950
NM_001103.3(ACTN2):c.2527-1G>A rs794728966
NM_001103.3(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.332G>T (p.Gly111Val) rs786204949
NM_001103.3(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.3(ACTN2):c.683T>C (p.Met228Thr) rs786205144

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