ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NC_000015.9:g.(?_35082593)_(35087029_?)dup
NM_005159.5(ACTC1):c.103T>G (p.Ser35Ala)
NM_005159.5(ACTC1):c.1053G>C (p.Leu351=) rs151321743
NM_005159.5(ACTC1):c.1081A>G (p.Lys361Glu)
NM_005159.5(ACTC1):c.10G>A (p.Asp4Asn) rs730880408
NM_005159.5(ACTC1):c.10G>C (p.Asp4His) rs730880408
NM_005159.5(ACTC1):c.129G>A (p.Gln43=) rs878854753
NM_005159.5(ACTC1):c.12C>A (p.Asp4Glu) rs768526036
NM_005159.5(ACTC1):c.130-9T>C rs147406641
NM_005159.5(ACTC1):c.134T>C (p.Val45Ala) rs1555418924
NM_005159.5(ACTC1):c.165C>T (p.Tyr55=) rs149432225
NM_005159.5(ACTC1):c.178G>A (p.Ala60Thr) rs1555418912
NM_005159.5(ACTC1):c.188A>G (p.Lys63Arg) rs794727502
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr) rs121912676
NM_005159.5(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005159.5(ACTC1):c.293T>C (p.Val98Ala) rs1555418891
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys) rs193922680
NM_005159.5(ACTC1):c.309C>A (p.His103Gln) rs769303249
NM_005159.5(ACTC1):c.309C>T (p.His103=) rs769303249
NM_005159.5(ACTC1):c.333G>A (p.Pro111=) rs774767260
NM_005159.5(ACTC1):c.342C>T (p.Pro114=) rs878854754
NM_005159.5(ACTC1):c.374T>C (p.Met125Thr)
NM_005159.5(ACTC1):c.375G>C (p.Met125Ile)
NM_005159.5(ACTC1):c.389A>G (p.Asn130Ser)
NM_005159.5(ACTC1):c.397G>A (p.Ala133Thr) rs1566967697
NM_005159.5(ACTC1):c.399C>T (p.Ala133=) rs764630691
NM_005159.5(ACTC1):c.405C>T (p.Tyr135=) rs181479041
NM_005159.5(ACTC1):c.423G>A (p.Val141=) rs922191208
NM_005159.5(ACTC1):c.454+9G>A rs148695567
NM_005159.5(ACTC1):c.454G>A (p.Gly152Ser) rs1247069535
NM_005159.5(ACTC1):c.455-4del
NM_005159.5(ACTC1):c.456C>T (p.Gly152=) rs771310484
NM_005159.5(ACTC1):c.458T>C (p.Ile153Thr) rs1555418843
NM_005159.5(ACTC1):c.465G>A (p.Leu155=) rs397517062
NM_005159.5(ACTC1):c.482T>C (p.Val161Ala) rs1060502824
NM_005159.5(ACTC1):c.496C>T (p.Pro166Ser) rs267606628
NM_005159.5(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.5(ACTC1):c.501C>G (p.Ile167Met) rs1306504752
NM_005159.5(ACTC1):c.507G>A (p.Glu169=) rs1555418837
NM_005159.5(ACTC1):c.513C>T (p.Tyr171=) rs145023222
NM_005159.5(ACTC1):c.524A>C (p.His175Pro) rs1566967487
NM_005159.5(ACTC1):c.529A>G (p.Ile177Val) rs730880392
NM_005159.5(ACTC1):c.537T>A (p.Arg179=) rs750131288
NM_005159.5(ACTC1):c.562A>G (p.Thr188Ala) rs1555418824
NM_005159.5(ACTC1):c.563C>T (p.Thr188Ile) rs730880394
NM_005159.5(ACTC1):c.56_57insCA (p.Lys20fs) rs730880387
NM_005159.5(ACTC1):c.574A>G (p.Met192Val) rs1555418823
NM_005159.5(ACTC1):c.607G>A (p.Val203Ile) rs1060502822
NM_005159.5(ACTC1):c.623G>A (p.Arg208His) rs142839840
NM_005159.5(ACTC1):c.62C>T (p.Ala21Val) rs1060502823
NM_005159.5(ACTC1):c.66C>T (p.Gly22=) rs1060504729
NM_005159.5(ACTC1):c.687G>A (p.Met229Ile)
NM_005159.5(ACTC1):c.692C>T (p.Thr231Ile) rs1060502825
NM_005159.5(ACTC1):c.707C>T (p.Ser236Phe)
NM_005159.5(ACTC1):c.723C>A (p.Ser241Arg) rs1566967406
NM_005159.5(ACTC1):c.755T>C (p.Ile252Thr) rs730880398
NM_005159.5(ACTC1):c.784A>T (p.Thr262Ser) rs1060502821
NM_005159.5(ACTC1):c.793C>G (p.Gln265Glu) rs727504323
NM_005159.5(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.5(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.5(ACTC1):c.886T>A (p.Tyr296Asn) rs730880402
NM_005159.5(ACTC1):c.886T>C (p.Tyr296His) rs730880402
NM_005159.5(ACTC1):c.892A>G (p.Asn298Asp)
NM_005159.5(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005159.5(ACTC1):c.90C>T (p.Arg30=) rs1555419004
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005159.5(ACTC1):c.934_935delinsT (p.Ala312fs)
NM_005159.5(ACTC1):c.941G>A (p.Arg314His) rs121912673
NM_005159.5(ACTC1):c.94G>A (p.Val32Ile) rs1555419003
NM_005159.5(ACTC1):c.957_959dup (p.Thr320dup)
NM_005159.5(ACTC1):c.968C>T (p.Ala323Val) rs730880404
NM_005159.5(ACTC1):c.973A>G (p.Ser325Gly) rs1555418679
NM_005159.5(ACTC1):c.991-10C>T rs1298992263

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.