ClinVar Miner

List of variants in gene ACTA1 reported as pathogenic for hereditary skeletal muscle disorder

Included ClinVar conditions (587):
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Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.436del (p.Ala146fs) rs1395648272 0.00005
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001100.4(ACTA1):c.84_85insT (p.Pro29fs) rs753923758 0.00002
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro) rs121909519 0.00001
NM_001100.4(ACTA1):c.616+1G>A rs111812550 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
NC_000001.11:g.229432790C>G rs727503798
NM_001100.3(ACTA1):c.[222G>T;223C>T]
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.1001C>G (p.Pro334Arg) rs1553255312
NM_001100.4(ACTA1):c.1006del (p.Glu336fs)
NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala) rs121909528
NM_001100.4(ACTA1):c.1049C>T (p.Ser350Leu) rs2102735031
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu) rs121909524
NM_001100.4(ACTA1):c.109G>C (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) rs1553255293
NM_001100.4(ACTA1):c.1127G>C (p.Cys376Ser)
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.1132T>C (p.Ter378Gln) rs1553255288
NM_001100.4(ACTA1):c.113G>C (p.Gly38Ala)
NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr) rs2102736554
NM_001100.4(ACTA1):c.128A>G (p.Gln43Arg) rs1659984269
NM_001100.4(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.4(ACTA1):c.137T>C (p.Met46Thr) rs1057521120
NM_001100.4(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
NM_001100.4(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.4(ACTA1):c.143G>T (p.Gly48Val) rs367543049
NM_001100.4(ACTA1):c.145A>G (p.Met49Val)
NM_001100.4(ACTA1):c.146T>G (p.Met49Arg) rs1553255506
NM_001100.4(ACTA1):c.155_158del (p.Lys52fs) rs1659979809
NM_001100.4(ACTA1):c.165C>G (p.Tyr55Ter)
NM_001100.4(ACTA1):c.169G>C (p.Gly57Arg) rs2102736416
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.181C>T (p.Gln61Ter) rs2102736408
NM_001100.4(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.4(ACTA1):c.203C>A (p.Thr68Asn)
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg) rs1571893885
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001100.4(ACTA1):c.217dup (p.Ile73fs) rs1571893878
NM_001100.4(ACTA1):c.227G>A (p.Gly76Asp)
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.275_277del (p.Phe92del) rs1558082053
NM_001100.4(ACTA1):c.280A>T (p.Asn94Tyr)
NM_001100.4(ACTA1):c.282C>A (p.Asn94Lys) rs772124885
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
NM_001100.4(ACTA1):c.338A>G (p.Asn113Ser)
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met) rs2102736219
NM_001100.4(ACTA1):c.36C>A (p.Cys12Ter) rs1025502215
NM_001100.4(ACTA1):c.39C>A (p.Asp13Glu) rs1659986880
NM_001100.4(ACTA1):c.400A>G (p.Met134Val) rs1659974377
NM_001100.4(ACTA1):c.400del (p.Met134fs) rs2102736194
NM_001100.4(ACTA1):c.402G>T (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.4(ACTA1):c.419C>A (p.Ala140Asp) rs1435160117
NM_001100.4(ACTA1):c.419C>G (p.Ala140Gly) rs1435160117
NM_001100.4(ACTA1):c.425T>C (p.Leu142Pro) rs1553255482
NM_001100.4(ACTA1):c.427T>C (p.Ser143Pro) rs1659973563
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001100.4(ACTA1):c.440C>T (p.Ser147Phe)
NM_001100.4(ACTA1):c.449C>G (p.Thr150Ser) rs1553255479
NM_001100.4(ACTA1):c.460G>C (p.Val154Leu) rs768144106
NM_001100.4(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.4(ACTA1):c.461_478del (p.Val154_Asp159del) rs1553255444
NM_001100.4(ACTA1):c.466G>C (p.Asp156His)
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.489C>A (p.His163Gln) rs1571893383
NM_001100.4(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.4(ACTA1):c.493G>C (p.Val165Leu) rs121909522
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.4(ACTA1):c.49G>A (p.Gly17Ser) rs121909521
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100.4(ACTA1):c.509G>A (p.Gly170Asp) rs2102735950
NM_001100.4(ACTA1):c.50G>A (p.Gly17Asp)
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu) rs587780272
NM_001100.4(ACTA1):c.541G>C (p.Asp181His)
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.553C>T (p.Arg185Cys) rs1064794287
NM_001100.4(ACTA1):c.557A>G (p.Asp186Gly) rs1571893319
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp) rs869312739
NM_001100.4(ACTA1):c.593G>A (p.Arg198His)
NM_001100.4(ACTA1):c.598T>A (p.Tyr200Asn) rs1553255432
NM_001100.4(ACTA1):c.599A>G (p.Tyr200Cys) rs2102735854
NM_001100.4(ACTA1):c.60A>C (p.Lys20Asn) rs1659986226
NM_001100.4(ACTA1):c.611C>T (p.Thr204Ile)
NM_001100.4(ACTA1):c.616G>A (p.Ala206Thr) rs1057521119
NM_001100.4(ACTA1):c.617C>T (p.Ala206Val) rs1571893145
NM_001100.4(ACTA1):c.620A>T (p.Glu207Val)
NM_001100.4(ACTA1):c.660C>A (p.Tyr220Ter) rs201823652
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.4(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.4(ACTA1):c.682G>T (p.Glu228Ter) rs1558081664
NM_001100.4(ACTA1):c.686T>C (p.Met229Thr)
NM_001100.4(ACTA1):c.704C>A (p.Ser235Tyr) rs2102735630
NM_001100.4(ACTA1):c.712del (p.Leu238fs) rs1211561143
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.739G>A (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.767G>A (p.Arg256His) rs1659954003
NM_001100.4(ACTA1):c.773G>A (p.Arg258His) rs1659953887
NM_001100.4(ACTA1):c.794A>G (p.Gln265Arg)
NM_001100.4(ACTA1):c.79G>A (p.Asp27Asn)
NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr) rs121909527
NM_001100.4(ACTA1):c.803T>C (p.Phe268Ser) rs1558081605
NM_001100.4(ACTA1):c.808G>A (p.Gly270Ser)
NM_001100.4(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.4(ACTA1):c.809-1G>T
NM_001100.4(ACTA1):c.809-2A>T rs1301902450
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp) rs1553255362
NM_001100.4(ACTA1):c.80A>G (p.Asp27Gly) rs1553255534
NM_001100.4(ACTA1):c.818C>A (p.Ser273Ter)
NM_001100.4(ACTA1):c.821C>A (p.Ala274Glu) rs1553255357
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001100.4(ACTA1):c.841T>C (p.Tyr281His) rs2102735278
NM_001100.4(ACTA1):c.842A>G (p.Tyr281Cys) rs1659944113
NM_001100.4(ACTA1):c.846C>G (p.Asn282Lys) rs2102735270
NM_001100.4(ACTA1):c.854T>G (p.Met285Arg)
NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)
NM_001100.4(ACTA1):c.868G>A (p.Asp290Asn)
NM_001100.4(ACTA1):c.868G>C (p.Asp290His) rs1553255354
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001100.4(ACTA1):c.920T>G (p.Met307Arg)
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn) rs398122936

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