ClinVar Miner

List of variants in gene combination ACTC1, LOC101928174 reported as uncertain significance for Familial hypertrophic cardiomyopathy 11; Dilated cardiomyopathy 1R; Atrial septal defect 5

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Total variants: 34
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HGVS dbSNP
NC_000015.10:g.(?_34790392)_(34794828_?)dup
NM_005159.4(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.4(ACTC1):c.129G>A (p.Gln43=) rs878854753
NM_005159.4(ACTC1):c.12C>A (p.Asp4Glu) rs768526036
NM_005159.4(ACTC1):c.134T>C (p.Val45Ala) rs1555418924
NM_005159.4(ACTC1):c.178G>A (p.Ala60Thr) rs1555418912
NM_005159.4(ACTC1):c.188A>G (p.Lys63Arg) rs794727502
NM_005159.4(ACTC1):c.268C>T (p.His90Tyr) rs121912676
NM_005159.4(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005159.4(ACTC1):c.293T>C (p.Val98Ala) rs1555418891
NM_005159.4(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.4(ACTC1):c.397G>A (p.Ala133Thr)
NM_005159.4(ACTC1):c.454G>A (p.Gly152Ser) rs1247069535
NM_005159.4(ACTC1):c.458T>C (p.Ile153Thr) rs1555418843
NM_005159.4(ACTC1):c.482T>C (p.Val161Ala) rs1060502824
NM_005159.4(ACTC1):c.496C>T (p.Pro166Ser) rs267606628
NM_005159.4(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.4(ACTC1):c.501C>G (p.Ile167Met) rs1306504752
NM_005159.4(ACTC1):c.507G>A (p.Glu169=) rs1555418837
NM_005159.4(ACTC1):c.524A>C (p.His175Pro)
NM_005159.4(ACTC1):c.529A>G (p.Ile177Val) rs730880392
NM_005159.4(ACTC1):c.562A>G (p.Thr188Ala) rs1555418824
NM_005159.4(ACTC1):c.563C>T (p.Thr188Ile) rs730880394
NM_005159.4(ACTC1):c.56_57insCA (p.Lys20Argfs) rs730880387
NM_005159.4(ACTC1):c.574A>G (p.Met192Val) rs1555418823
NM_005159.4(ACTC1):c.607G>A (p.Val203Ile) rs1060502822
NM_005159.4(ACTC1):c.62C>T (p.Ala21Val) rs1060502823
NM_005159.4(ACTC1):c.692C>T (p.Thr231Ile) rs1060502825
NM_005159.4(ACTC1):c.723C>A (p.Ser241Arg)
NM_005159.4(ACTC1):c.784A>T (p.Thr262Ser) rs1060502821
NM_005159.4(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.4(ACTC1):c.886T>A (p.Tyr296Asn) rs730880402
NM_005159.4(ACTC1):c.94G>A (p.Val32Ile) rs1555419003
NM_005159.4(ACTC1):c.973A>G (p.Ser325Gly) rs1555418679

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