ClinVar Miner

List of variants in gene ACTN2 reported as uncertain significance for Cardiovascular phenotype

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Total variants: 28
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HGVS dbSNP
NM_001103.3(ACTN2):c.1058G>A (p.Arg353Gln) rs780552939
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001103.3(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886
NM_001103.3(ACTN2):c.1333G>A (p.Glu445Lys) rs773942709
NM_001103.3(ACTN2):c.1348G>T (p.Asp450Tyr) rs774252565
NM_001103.3(ACTN2):c.1445G>A (p.Arg482Gln) rs778023612
NM_001103.3(ACTN2):c.1691C>T (p.Thr564Met) rs876661341
NM_001103.3(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803
NM_001103.3(ACTN2):c.1930G>A (p.Ala644Thr) rs146164600
NM_001103.3(ACTN2):c.1972G>C (p.Glu658Gln) rs374135486
NM_001103.3(ACTN2):c.2108A>T (p.Gln703Leu) rs370862426
NM_001103.3(ACTN2):c.2147C>T (p.Thr716Met) rs193922635
NM_001103.3(ACTN2):c.2161C>A (p.Arg721Ser) rs149433837
NM_001103.3(ACTN2):c.2194G>A (p.Ala732Thr) rs777744290
NM_001103.3(ACTN2):c.2367+5G>A rs200469353
NM_001103.3(ACTN2):c.2497G>A (p.Ala833Thr) rs200854335
NM_001103.3(ACTN2):c.26A>G (p.Gln9Arg) rs121434525
NM_001103.3(ACTN2):c.278G>A (p.Arg93Gln) rs777124854
NM_001103.3(ACTN2):c.361+5G>C rs1553300073
NM_001103.3(ACTN2):c.439T>C (p.Ser147Pro) rs886038915
NM_001103.3(ACTN2):c.556C>T (p.Leu186Phe) rs371930065
NM_001103.3(ACTN2):c.575G>A (p.Arg192Gln) rs200316891
NM_001103.3(ACTN2):c.703G>A (p.Val235Met) rs754929573
NM_001103.3(ACTN2):c.745G>A (p.Val249Ile) rs771260546
NM_001103.3(ACTN2):c.893G>A (p.Arg298His) rs142482143
NM_001103.3(ACTN2):c.899C>T (p.Thr300Met) rs144025957
NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) rs370757762
NM_001103.3(ACTN2):c.979C>T (p.Arg327Cys) rs769485633

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