ClinVar Miner

List of variants in gene ACTN2 reported as pathogenic

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg) rs121434525 0.00070
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met) rs200248944 0.00027
NM_001103.4(ACTN2):c.574C>T (p.Arg192Ter) rs1253211384 0.00001
NM_001103.4(ACTN2):c.1459T>C (p.Cys487Arg) rs1572140109
NM_001103.4(ACTN2):c.1883A>G (p.Glu628Gly) rs786204951
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001103.4(ACTN2):c.2194_2226del (p.Ala732_Ile742del) rs1572148914
NM_001103.4(ACTN2):c.2276G>C (p.Arg759Thr) rs786204950
NM_001103.4(ACTN2):c.2527-1G>A rs794728966
NM_001103.4(ACTN2):c.2578C>T (p.Gln860Ter) rs763078071
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val) rs786204949
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr) rs727502886
NM_001103.4(ACTN2):c.392T>C (p.Leu131Pro) rs1572114611
NM_001103.4(ACTN2):c.616-2A>G
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr) rs786205144

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