ClinVar Miner

List of variants in gene ACTA1 reported as uncertain significance for congenital myopathy

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 151
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.*248G>A rs551585351 0.00167
NM_001100.4(ACTA1):c.132C>T (p.Gly44=) rs146956806 0.00066
NM_001100.4(ACTA1):c.1125A>G (p.Lys375=) rs142311664 0.00050
NM_001100.4(ACTA1):c.786G>C (p.Thr262=) rs141030526 0.00034
NM_001100.4(ACTA1):c.867C>T (p.Ile289=) rs140074813 0.00009
NM_001100.4(ACTA1):c.435C>T (p.Tyr145=) rs371410845 0.00003
NM_001100.4(ACTA1):c.809-14_809-13insA rs749384329 0.00003
NM_001100.4(ACTA1):c.389A>G (p.Asn130Ser) rs766934634 0.00002
NM_001100.4(ACTA1):c.808+6C>A rs200342114 0.00002
NM_001100.4(ACTA1):c.809-16_809-15insG rs746125735 0.00002
NM_001100.4(ACTA1):c.*66G>A rs1403018747 0.00001
NM_001100.4(ACTA1):c.329C>T (p.Ala110Val) rs970679543 0.00001
NM_001100.4(ACTA1):c.454+3G>T rs200976037 0.00001
NM_001100.4(ACTA1):c.455-9C>G rs772957464 0.00001
NM_001100.4(ACTA1):c.606C>A (p.Phe202Leu) rs1255258064 0.00001
NM_001100.4(ACTA1):c.616+5G>A rs773010488 0.00001
NM_001100.4(ACTA1):c.622C>A (p.Arg208Ser) rs148514635 0.00001
NM_001100.4(ACTA1):c.749T>C (p.Ile250Thr) rs1659954399 0.00001
NM_001100.4(ACTA1):c.82G>T (p.Ala28Ser) rs546670743 0.00001
NM_001100.4(ACTA1):c.888T>C (p.Tyr296=) rs770931836 0.00001
NC_000001.11:g.(?_229431489)_(229433125_?)dup
NM_001100.3(ACTA1):c.220G>C (p.Glu74Gln) rs727503798
NM_001100.4(ACTA1):c.1010G>A (p.Arg337His)
NM_001100.4(ACTA1):c.1014A>C (p.Lys338Asn) rs1553255306
NM_001100.4(ACTA1):c.1015T>A (p.Tyr339Asn)
NM_001100.4(ACTA1):c.1018T>G (p.Ser340Ala)
NM_001100.4(ACTA1):c.1027A>G (p.Ile343Val)
NM_001100.4(ACTA1):c.1030G>A (p.Gly344Ser)
NM_001100.4(ACTA1):c.1031G>A (p.Gly344Asp) rs1558081360
NM_001100.4(ACTA1):c.1033G>A (p.Gly345Ser)
NM_001100.4(ACTA1):c.1044_1060del (p.Ala349fs) rs2102735016
NM_001100.4(ACTA1):c.104C>G (p.Ser35Cys) rs2102736568
NM_001100.4(ACTA1):c.1057A>G (p.Thr353Ala) rs1659934469
NM_001100.4(ACTA1):c.1061T>C (p.Phe354Ser)
NM_001100.4(ACTA1):c.1071G>C (p.Met357Ile) rs745494410
NM_001100.4(ACTA1):c.108C>T (p.Ile36=) rs143948837
NM_001100.4(ACTA1):c.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.4(ACTA1):c.1113C>G (p.Ile371Met) rs886046075
NM_001100.4(ACTA1):c.1127G>A (p.Cys376Tyr)
NM_001100.4(ACTA1):c.1128C>T (p.Cys376=) rs1659932688
NM_001100.4(ACTA1):c.113G>A (p.Gly38Asp) rs2102736562
NM_001100.4(ACTA1):c.119C>G (p.Pro40Arg) rs1659984455
NM_001100.4(ACTA1):c.121C>G (p.Arg41Gly) rs1429699993
NM_001100.4(ACTA1):c.129+14T>C rs886046076
NM_001100.4(ACTA1):c.129+4A>T
NM_001100.4(ACTA1):c.130-11C>A
NM_001100.4(ACTA1):c.130-3C>T
NM_001100.4(ACTA1):c.130-5T>A
NM_001100.4(ACTA1):c.130G>T (p.Gly44Cys) rs1131691941
NM_001100.4(ACTA1):c.131G>T (p.Gly44Val) rs1558082125
NM_001100.4(ACTA1):c.133G>A (p.Val45Ile) rs398123562
NM_001100.4(ACTA1):c.148G>T (p.Gly50Cys) rs1558082103
NM_001100.4(ACTA1):c.153G>C (p.Gln51His) rs2102736429
NM_001100.4(ACTA1):c.158A>T (p.Asp53Val) rs2102736424
NM_001100.4(ACTA1):c.191G>T (p.Arg64Ile) rs2102736399
NM_001100.4(ACTA1):c.1A>G (p.Met1Val) rs1659988389
NM_001100.4(ACTA1):c.210G>A (p.Lys70=)
NM_001100.4(ACTA1):c.215C>T (p.Pro72Leu)
NM_001100.4(ACTA1):c.283G>A (p.Glu95Lys) rs1571893814
NM_001100.4(ACTA1):c.284A>G (p.Glu95Gly)
NM_001100.4(ACTA1):c.307C>T (p.His103Tyr)
NM_001100.4(ACTA1):c.311C>A (p.Pro104His)
NM_001100.4(ACTA1):c.323C>T (p.Thr108Ile) rs1659976518
NM_001100.4(ACTA1):c.331_348del (p.Pro111_Ala116del)
NM_001100.4(ACTA1):c.334C>A (p.Leu112Ile) rs146508471
NM_001100.4(ACTA1):c.346G>T (p.Ala116Ser) rs1659975786
NM_001100.4(ACTA1):c.349A>T (p.Asn117Tyr)
NM_001100.4(ACTA1):c.358A>C (p.Lys120Gln)
NM_001100.4(ACTA1):c.370A>G (p.Ile124Val)
NM_001100.4(ACTA1):c.37G>A (p.Asp13Asn) rs1571894217
NM_001100.4(ACTA1):c.391G>A (p.Val131Met) rs1273559032
NM_001100.4(ACTA1):c.3G>A (p.Met1Ile)
NM_001100.4(ACTA1):c.407T>C (p.Val136Ala)
NM_001100.4(ACTA1):c.40A>T (p.Asn14Tyr) rs2102736617
NM_001100.4(ACTA1):c.410C>A (p.Ala137Asp)
NM_001100.4(ACTA1):c.425T>G (p.Leu142Arg) rs1553255482
NM_001100.4(ACTA1):c.428C>T (p.Ser143Phe)
NM_001100.4(ACTA1):c.431T>C (p.Leu144Pro)
NM_001100.4(ACTA1):c.434A>T (p.Tyr145Phe)
NM_001100.4(ACTA1):c.437C>T (p.Ala146Val) rs1659973054
NM_001100.4(ACTA1):c.442G>C (p.Gly148Arg) rs398123563
NM_001100.4(ACTA1):c.446G>A (p.Arg149Lys) rs398123564
NM_001100.4(ACTA1):c.452C>A (p.Thr151Asn) rs2102736155
NM_001100.4(ACTA1):c.453C>G (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.4(ACTA1):c.455-20TC[2]
NM_001100.4(ACTA1):c.455-7C>A
NM_001100.4(ACTA1):c.480C>A (p.Gly160=) rs1571893385
NM_001100.4(ACTA1):c.491A>G (p.Asn164Ser)
NM_001100.4(ACTA1):c.515C>T (p.Ala172Val) rs587780272
NM_001100.4(ACTA1):c.517C>A (p.Leu173Met) rs2102735941
NM_001100.4(ACTA1):c.532A>C (p.Met178Leu)
NM_001100.4(ACTA1):c.539T>C (p.Leu180Pro) rs1558081797
NM_001100.4(ACTA1):c.575T>C (p.Met192Thr) rs1057523333
NM_001100.4(ACTA1):c.587C>T (p.Thr196Ile) rs2102735869
NM_001100.4(ACTA1):c.616+4C>G rs371799971
NM_001100.4(ACTA1):c.616+4C>T rs371799971
NM_001100.4(ACTA1):c.61G>A (p.Ala21Thr) rs1659986179
NM_001100.4(ACTA1):c.627G>C (p.Glu209Asp)
NM_001100.4(ACTA1):c.627G>T (p.Glu209Asp)
NM_001100.4(ACTA1):c.64G>T (p.Gly22Cys)
NM_001100.4(ACTA1):c.659A>T (p.Tyr220Phe) rs1571893107
NM_001100.4(ACTA1):c.661G>T (p.Val221Leu)
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.676G>A (p.Glu226Lys) rs1057521118
NM_001100.4(ACTA1):c.697_698delinsAA (p.Ala233Asn) rs2102735641
NM_001100.4(ACTA1):c.69C>A (p.Phe23Leu)
NM_001100.4(ACTA1):c.709T>C (p.Ser237Pro)
NM_001100.4(ACTA1):c.713T>C (p.Leu238Pro) rs1571893051
NM_001100.4(ACTA1):c.716A>G (p.Glu239Gly)
NM_001100.4(ACTA1):c.727G>A (p.Glu243Lys) rs367543051
NM_001100.4(ACTA1):c.727G>C (p.Glu243Gln)
NM_001100.4(ACTA1):c.738C>A (p.Asp246Glu) rs748592740
NM_001100.4(ACTA1):c.738C>G (p.Asp246Glu)
NM_001100.4(ACTA1):c.742C>A (p.Gln248Lys) rs1659954634
NM_001100.4(ACTA1):c.751A>T (p.Thr251Ser)
NM_001100.4(ACTA1):c.757G>T (p.Gly253Cys) rs2102735572
NM_001100.4(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.4(ACTA1):c.797C>T (p.Pro266Leu)
NM_001100.4(ACTA1):c.800C>G (p.Ser267Cys) rs2102735536
NM_001100.4(ACTA1):c.805A>G (p.Ile269Val)
NM_001100.4(ACTA1):c.808+3G>A rs549268481
NM_001100.4(ACTA1):c.809-10C>A rs1659945481
NM_001100.4(ACTA1):c.809-13_809-12dup rs201427429
NM_001100.4(ACTA1):c.809-19_809-18insA rs1659946693
NM_001100.4(ACTA1):c.809-9G>A
NM_001100.4(ACTA1):c.811A>G (p.Met271Val) rs1553255361
NM_001100.4(ACTA1):c.819_820delinsTT (p.Ala274Ser)
NM_001100.4(ACTA1):c.81C>A (p.Asp27Glu) rs1553255533
NM_001100.4(ACTA1):c.81C>T (p.Asp27=) rs1553255533
NM_001100.4(ACTA1):c.82G>A (p.Ala28Thr)
NM_001100.4(ACTA1):c.82G>C (p.Ala28Pro) rs546670743
NM_001100.4(ACTA1):c.82_83delinsTG (p.Ala28Cys) rs2102736585
NM_001100.4(ACTA1):c.836C>A (p.Thr279Asn)
NM_001100.4(ACTA1):c.866T>A (p.Ile289Asn) rs1659943773
NM_001100.4(ACTA1):c.880G>T (p.Asp294Tyr)
NM_001100.4(ACTA1):c.897C>A (p.Asn299Lys) rs533868659
NM_001100.4(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
NM_001100.4(ACTA1):c.911G>A (p.Gly304Asp) rs2102735242
NM_001100.4(ACTA1):c.922T>C (p.Tyr308His) rs2102735230
NM_001100.4(ACTA1):c.923A>G (p.Tyr308Cys) rs878854374
NM_001100.4(ACTA1):c.954G>C (p.Glu318Asp)
NM_001100.4(ACTA1):c.963_968del (p.Leu322_Ala323del) rs1553255336
NM_001100.4(ACTA1):c.964C>G (p.Leu322Val) rs1659940726
NM_001100.4(ACTA1):c.965T>A (p.Leu322Gln) rs1571892527
NM_001100.4(ACTA1):c.966G>A (p.Leu322=) rs765996798
NM_001100.4(ACTA1):c.981G>C (p.Met327Ile) rs1553255334
NM_001100.4(ACTA1):c.983_985del (p.Lys328del) rs1659939983
NM_001100.4(ACTA1):c.986T>C (p.Ile329Thr)
NM_001100.4(ACTA1):c.986_989dup (p.Lys330fs)
NM_001100.4(ACTA1):c.990+3G>T

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.