ClinVar Miner

List of variants in gene combination ACTC1, LOC101928174 studied for not specified

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Total variants: 74
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HGVS dbSNP
NM_005159.4(ACTC1):c.*3T>C rs727504415
NM_005159.4(ACTC1):c.*5C>G rs756594449
NM_005159.4(ACTC1):c.-17C>G rs1411090601
NM_005159.4(ACTC1):c.-22-15C>G rs368171271
NM_005159.4(ACTC1):c.-27_-26insCCGCC rs1064795891
NM_005159.4(ACTC1):c.-36C>G rs886051091
NM_005159.4(ACTC1):c.-44G>A rs909469426
NM_005159.4(ACTC1):c.1039A>G (p.Ile347Val) rs727505192
NM_005159.4(ACTC1):c.1053G>A (p.Leu351=) rs151321743
NM_005159.4(ACTC1):c.1083G>A (p.Lys361=) rs754736799
NM_005159.4(ACTC1):c.1084C>T (p.Gln362Ter) rs876657738
NM_005159.4(ACTC1):c.1092C>T (p.Tyr364=) rs140261885
NM_005159.4(ACTC1):c.1098G>A (p.Glu366=) rs758173419
NM_005159.4(ACTC1):c.129+12_129+13delGCinsCT rs1555418997
NM_005159.4(ACTC1):c.129+18C>A rs368977747
NM_005159.4(ACTC1):c.129+23dupC rs148433308
NM_005159.4(ACTC1):c.129+32C>A rs76013827
NM_005159.4(ACTC1):c.129+6C>G rs564151494
NM_005159.4(ACTC1):c.130-15T>G rs376417852
NM_005159.4(ACTC1):c.130-17A>C rs1057523026
NM_005159.4(ACTC1):c.165C>T (p.Tyr55=) rs149432225
NM_005159.4(ACTC1):c.186delC (p.Ser62Argfs) rs876657739
NM_005159.4(ACTC1):c.217A>G (p.Ile73Val) rs750951965
NM_005159.4(ACTC1):c.219C>T (p.Ile73=) rs376566924
NM_005159.4(ACTC1):c.229A>G (p.Ile77Val) rs397517056
NM_005159.4(ACTC1):c.246C>T (p.Asp82=) rs373261583
NM_005159.4(ACTC1):c.268C>T (p.His90Tyr) rs121912676
NM_005159.4(ACTC1):c.270C>T (p.His90=) rs138812333
NM_005159.4(ACTC1):c.28C>A (p.Leu10Met) rs397517057
NM_005159.4(ACTC1):c.294G>A (p.Val98=) rs397517058
NM_005159.4(ACTC1):c.310C>T (p.Pro104Ser) rs397517059
NM_005159.4(ACTC1):c.355G>C (p.Glu119Gln) rs397517060
NM_005159.4(ACTC1):c.372C>G (p.Ile124Met) rs397517061
NM_005159.4(ACTC1):c.383C>T (p.Thr128Ile) rs727504308
NM_005159.4(ACTC1):c.397G>A (p.Ala133Thr)
NM_005159.4(ACTC1):c.399C>T (p.Ala133=) rs764630691
NM_005159.4(ACTC1):c.42C>T (p.Asn14=)
NM_005159.4(ACTC1):c.454+9G>A rs148695567
NM_005159.4(ACTC1):c.455-7C>T rs768363857
NM_005159.4(ACTC1):c.465G>A (p.Leu155=) rs397517062
NM_005159.4(ACTC1):c.475G>A (p.Asp159Asn) rs397517063
NM_005159.4(ACTC1):c.500T>C (p.Ile167Thr) rs730880409
NM_005159.4(ACTC1):c.513C>T (p.Tyr171=) rs145023222
NM_005159.4(ACTC1):c.514G>A (p.Ala172Thr) rs876661340
NM_005159.4(ACTC1):c.516T>C (p.Ala172=) rs397517064
NM_005159.4(ACTC1):c.529A>G (p.Ile177Val) rs730880392
NM_005159.4(ACTC1):c.532A>T (p.Met178Leu) rs1555418829
NM_005159.4(ACTC1):c.56_57insCA (p.Lys20Argfs) rs730880387
NM_005159.4(ACTC1):c.616+13_616+14delGT rs749539033
NM_005159.4(ACTC1):c.616+1G>A rs111904141
NM_005159.4(ACTC1):c.616+8T>C rs397517066
NM_005159.4(ACTC1):c.622C>T (p.Arg208Cys) rs727505179
NM_005159.4(ACTC1):c.623G>A (p.Arg208His) rs142839840
NM_005159.4(ACTC1):c.633C>A (p.Val211=) rs199947846
NM_005159.4(ACTC1):c.635G>A (p.Arg212His) rs397517067
NM_005159.4(ACTC1):c.646G>T (p.Glu216Ter) rs1060499837
NM_005159.4(ACTC1):c.663C>T (p.Val221=) rs766868624
NM_005159.4(ACTC1):c.739G>A (p.Gly247Ser) rs727505330
NM_005159.4(ACTC1):c.756T>G (p.Ile252Met) rs371940910
NM_005159.4(ACTC1):c.76G>A (p.Asp26Asn) rs727504399
NM_005159.4(ACTC1):c.798C>T (p.Pro266=) rs397517068
NM_005159.4(ACTC1):c.7G>C (p.Asp3His) rs397517069
NM_005159.4(ACTC1):c.806T>C (p.Ile269Thr) rs397517071
NM_005159.4(ACTC1):c.808+3G>A rs397517070
NM_005159.4(ACTC1):c.809-12A>G rs587780846
NM_005159.4(ACTC1):c.809-16_809-13delTGTG rs59431308
NM_005159.4(ACTC1):c.83C>T (p.Ala28Val) rs397517072
NM_005159.4(ACTC1):c.840T>C (p.Thr280=) rs1057522193
NM_005159.4(ACTC1):c.850A>T (p.Ile284Phe) rs397517073
NM_005159.4(ACTC1):c.854T>C (p.Met285Thr) rs869025354
NM_005159.4(ACTC1):c.903A>G (p.Leu301=) rs138347995
NM_005159.4(ACTC1):c.908G>T (p.Gly303Val) rs1057518530
NM_005159.4(ACTC1):c.918T>A (p.Thr306=) rs397517074
NM_005159.4(ACTC1):c.927T>C (p.Pro309=) rs2307493

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