ClinVar Miner

List of variants in gene ACTA1 reported as likely pathogenic for congenital myopathy

Included ClinVar conditions (317):
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Gene type:
ClinVar version:
Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.460G>T (p.Val154Leu) rs768144106 0.00001
NM_001100.4(ACTA1):c.990+1G>T rs372686280 0.00001
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.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.4(ACTA1):c.1003C>G (p.Pro335Ala) rs1558081384
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) rs1057518493
NM_001100.4(ACTA1):c.1004C>T (p.Pro335Leu) rs1057518493
NM_001100.4(ACTA1):c.1043T>A (p.Leu348Gln) rs2102735038
NM_001100.4(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.4(ACTA1):c.1058C>T (p.Thr353Ile)
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.1075A>G (p.Ile359Val)
NM_001100.4(ACTA1):c.1092del (p.Glu363_Tyr364insTer)
NM_001100.4(ACTA1):c.1106C>T (p.Pro369Leu) rs1553255293
NM_001100.4(ACTA1):c.1123A>G (p.Lys375Glu) rs1571892209
NM_001100.4(ACTA1):c.1125A>C (p.Lys375Asn)
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.1130T>C (p.Phe377Ser) rs1571892193
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp) rs2102736562
NM_001100.4(ACTA1):c.130-1G>A
NM_001100.4(ACTA1):c.140_141delinsAA (p.Val47Glu)
NM_001100.4(ACTA1):c.142G>C (p.Gly48Arg) rs794727488
NM_001100.4(ACTA1):c.143G>C (p.Gly48Ala)
NM_001100.4(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.4(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.4(ACTA1):c.175G>A (p.Glu59Lys)
NM_001100.4(ACTA1):c.194G>T (p.Gly65Val)
NM_001100.4(ACTA1):c.197T>G (p.Ile66Ser) rs1553255502
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001100.4(ACTA1):c.236C>T (p.Thr79Ile) rs1659978452
NM_001100.4(ACTA1):c.286C>G (p.Leu96Val) rs2102736312
NM_001100.4(ACTA1):c.289C>G (p.Arg97Gly)
NM_001100.4(ACTA1):c.304G>A (p.Glu102Lys) rs1057520216
NM_001100.4(ACTA1):c.327G>C (p.Glu109Asp)
NM_001100.4(ACTA1):c.346G>A (p.Ala116Thr) rs1659975786
NM_001100.4(ACTA1):c.346G>C (p.Ala116Pro)
NM_001100.4(ACTA1):c.347C>T (p.Ala116Val) rs1659975747
NM_001100.4(ACTA1):c.350del (p.Asn117fs) rs1659975666
NM_001100.4(ACTA1):c.355G>A (p.Glu119Lys)
NM_001100.4(ACTA1):c.355G>C (p.Glu119Gln)
NM_001100.4(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
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.430C>T (p.Leu144Phe) rs886039557
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001100.4(ACTA1):c.442G>A (p.Gly148Ser) rs398123563
NM_001100.4(ACTA1):c.443G>T (p.Gly148Val)
NM_001100.4(ACTA1):c.448A>T (p.Thr150Ser)
NM_001100.4(ACTA1):c.478G>A (p.Gly160Ser) rs1064794652
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100.4(ACTA1):c.521C>T (p.Pro174Leu) rs1057519311
NM_001100.4(ACTA1):c.529A>G (p.Ile177Val) rs1558081804
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.553C>A (p.Arg185Ser) rs1064794287
NM_001100.4(ACTA1):c.556G>A (p.Asp186Asn) rs2102735904
NM_001100.4(ACTA1):c.556G>C (p.Asp186His)
NM_001100.4(ACTA1):c.581_589del (p.Ile194_Glu197delinsLys) rs1659962077
NM_001100.4(ACTA1):c.586A>C (p.Thr196Pro)
NM_001100.4(ACTA1):c.589G>A (p.Glu197Lys)
NM_001100.4(ACTA1):c.592C>T (p.Arg198Cys) rs1659962016
NM_001100.4(ACTA1):c.617-5C>A rs199804338
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.685A>G (p.Met229Val) rs794727714
NM_001100.4(ACTA1):c.685A>T (p.Met229Leu) rs794727714
NM_001100.4(ACTA1):c.739G>C (p.Gly247Arg) rs1057521117
NM_001100.4(ACTA1):c.758G>A (p.Gly253Asp)
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) rs1571892988
NM_001100.4(ACTA1):c.763G>C (p.Glu255Gln)
NM_001100.4(ACTA1):c.766C>G (p.Arg256Gly)
NM_001100.4(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.4(ACTA1):c.769T>C (p.Phe257Leu)
NM_001100.4(ACTA1):c.772C>G (p.Arg258Gly)
NM_001100.4(ACTA1):c.809-10C>A rs1659945481
NM_001100.4(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.4(ACTA1):c.821C>T (p.Ala274Val) rs1553255357
NM_001100.4(ACTA1):c.834G>T (p.Glu278Asp)
NM_001100.4(ACTA1):c.844A>C (p.Asn282His)
NM_001100.4(ACTA1):c.89G>A (p.Arg30Lys)
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.4(ACTA1):c.925C>T (p.Pro309Ser)
NM_001100.4(ACTA1):c.936del (p.Asp313fs)
NM_001100.4(ACTA1):c.980T>A (p.Met327Lys) rs2102735175

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