ClinVar Miner

List of variants in gene ACTG1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 276
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_001614.5(ACTG1):c.363+13C>A rs9910792 0.43644
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_001614.5(ACTG1):c.363+58G>A rs9912409 0.27171
NM_001614.5(ACTG1):c.363+59G>T rs9912403 0.24445
NM_001614.5(ACTG1):c.985-32T>C rs76770927 0.04575
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_001614.5(ACTG1):c.*284A>G rs11549167 0.04191
NM_001614.5(ACTG1):c.*192G>C rs3204704 0.04189
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223 0.04188
NM_001614.5(ACTG1):c.802+33A>T rs80345231 0.04188
NM_001614.5(ACTG1):c.-31G>C rs143315390 0.02632
NM_001614.5(ACTG1):c.363+123C>A rs117809695 0.01608
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_001614.5(ACTG1):c.*134C>T rs28478053 0.01352
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_001614.5(ACTG1):c.124-14G>A rs115307446 0.01103
NC_000017.11:g.81512884C>A rs555771133 0.00997
NM_001614.5(ACTG1):c.-24C>T rs149163199 0.00477
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_001614.5(ACTG1):c.363+127C>T rs143384856 0.00303
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_001614.5(ACTG1):c.985-38G>A rs527632143 0.00250
NM_001614.5(ACTG1):c.*126C>G rs140458109 0.00232
NM_001614.5(ACTG1):c.*146A>G rs11549165 0.00205
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_001614.5(ACTG1):c.*227C>T rs184661152 0.00137
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_001614.5(ACTG1):c.*199A>T rs188302477 0.00107
NM_001614.5(ACTG1):c.-42G>A rs782068009 0.00106
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514 0.00078
NM_001614.5(ACTG1):c.*143G>C rs550984799 0.00073
NM_001614.5(ACTG1):c.*32A>G rs782078011 0.00067
NM_001614.5(ACTG1):c.363+5G>A rs116329164 0.00061
NM_001614.5(ACTG1):c.-27C>T rs552393684 0.00060
NM_001614.5(ACTG1):c.802+22T>A rs370323297 0.00059
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_001614.5(ACTG1):c.364-113C>T rs528555178 0.00052
NM_001614.5(ACTG1):c.-26G>A rs527479909 0.00047
NM_001614.5(ACTG1):c.-6-37C>T rs377210573 0.00043
NM_001614.5(ACTG1):c.-6-16A>G rs373198187 0.00041
NM_001614.5(ACTG1):c.*259C>T rs540974291 0.00040
NM_001614.5(ACTG1):c.1107C>T (p.Ile369=) rs372665803 0.00035
NM_001614.5(ACTG1):c.-43T>A rs1057522087 0.00031
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) rs144338558 0.00031
NM_001614.5(ACTG1):c.364-8C>T rs201748657 0.00031
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323 0.00028
NM_001614.5(ACTG1):c.654C>T (p.Tyr218=) rs182162229 0.00024
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_001614.5(ACTG1):c.364-116C>G rs782603481 0.00021
NM_001614.5(ACTG1):c.-28C>T rs782317187 0.00020
NM_001614.5(ACTG1):c.*112C>T rs368494254 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001614.5(ACTG1):c.803-3T>C rs369438865 0.00019
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001614.5(ACTG1):c.870C>T (p.Arg290=) rs565983582 0.00017
NM_001614.5(ACTG1):c.803-29C>T rs189965694 0.00016
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869 0.00016
NM_001614.5(ACTG1):c.363+124C>T rs553137062 0.00014
NM_001614.5(ACTG1):c.*2C>T rs373771602 0.00013
NM_001614.5(ACTG1):c.-6-33C>T rs782471272 0.00013
NM_001614.5(ACTG1):c.561C>T (p.Asp187=) rs782649322 0.00011
NM_001614.5(ACTG1):c.984+7C>T rs369691985 0.00011
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) rs375450454 0.00009
NM_001614.5(ACTG1):c.364-9C>T rs375907911 0.00009
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) rs141964376 0.00009
NM_001614.5(ACTG1):c.612C>T (p.Ala204=) rs368022367 0.00009
NM_001614.5(ACTG1):c.858C>T (p.Asp286=) rs201277295 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001614.5(ACTG1):c.364-20C>T rs138210010 0.00008
NM_001614.5(ACTG1):c.486G>A (p.Thr162=) rs782442814 0.00008
NM_001614.5(ACTG1):c.669C>T (p.Phe223=) rs373099591 0.00008
NM_001614.5(ACTG1):c.816C>T (p.Cys272=) rs376841359 0.00008
NM_001614.5(ACTG1):c.168C>T (p.Asp56=) rs368299537 0.00007
NM_001614.5(ACTG1):c.364-10C>T rs200552253 0.00007
NM_001614.5(ACTG1):c.124-9C>T rs376850595 0.00006
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466 0.00006
NM_001614.5(ACTG1):c.267C>T (p.Thr89=) rs140398667 0.00006
NM_001614.5(ACTG1):c.318C>T (p.Thr106=) rs372370199 0.00006
NM_001614.5(ACTG1):c.351G>A (p.Glu117=) rs200772616 0.00006
NM_001614.5(ACTG1):c.363+7C>G rs782205549 0.00006
NM_001614.5(ACTG1):c.609G>A (p.Thr203=) rs148528303 0.00006
NM_001614.5(ACTG1):c.624C>T (p.Ile208=) rs370369574 0.00006
NM_001614.5(ACTG1):c.690C>T (p.Ala230=) rs11549213 0.00006
NM_001614.5(ACTG1):c.*128T>G rs550105066 0.00005
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501 0.00005
NM_001614.5(ACTG1):c.924C>T (p.Gly308=) rs371738013 0.00005
NM_001614.5(ACTG1):c.627G>A (p.Val209=) rs1381583619 0.00004
NM_001614.5(ACTG1):c.666C>T (p.Asp222=) rs376839455 0.00004
NM_001614.5(ACTG1):c.1053C>T (p.Thr351=) rs148267855 0.00003
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917 0.00003
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=) rs373572370 0.00003
NM_001614.5(ACTG1):c.534G>A (p.Leu178=) rs140035543 0.00003
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_001614.5(ACTG1):c.696C>T (p.Ser232=) rs202155328 0.00003
NM_001614.5(ACTG1):c.720C>T (p.Tyr240=) rs376038784 0.00003
NM_001614.5(ACTG1):c.802+20G>A rs782239781 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001614.5(ACTG1):c.1023C>T (p.Ile341=) rs140865670 0.00002
NM_001614.5(ACTG1):c.124-16G>A rs782370155 0.00002
NM_001614.5(ACTG1):c.363+60C>T rs569289825 0.00002
NM_001614.5(ACTG1):c.429C>T (p.Tyr143=) rs782719226 0.00002
NM_001614.5(ACTG1):c.861G>A (p.Val287=) rs558300445 0.00002
NM_001614.5(ACTG1):c.945G>A (p.Lys315=) rs727502881 0.00002
NM_001614.5(ACTG1):c.*6C>G rs782239083 0.00001
NM_001614.5(ACTG1):c.1104C>T (p.Ser368=) rs1433816139 0.00001
NM_001614.5(ACTG1):c.123+8G>A rs536476533 0.00001
NM_001614.5(ACTG1):c.138C>T (p.Gly46=) rs374907377 0.00001
NM_001614.5(ACTG1):c.193C>T (p.Leu65=) rs1275470163 0.00001
NM_001614.5(ACTG1):c.208C>T (p.Pro70Ser) rs1568062708 0.00001
NM_001614.5(ACTG1):c.310C>T (p.Leu104=) rs782549602 0.00001
NM_001614.5(ACTG1):c.378C>T (p.Thr126=) rs11549201 0.00001
NM_001614.5(ACTG1):c.390G>A (p.Pro130=) rs561518636 0.00001
NM_001614.5(ACTG1):c.417G>C (p.Val139=) rs1367861495 0.00001
NM_001614.5(ACTG1):c.422_423insGACA (p.Leu142fs) rs1555666808 0.00001
NM_001614.5(ACTG1):c.888C>T (p.Asn296=) rs782140372 0.00001
NM_001614.5(ACTG1):c.913A>G (p.Met305Val) rs1555666484 0.00001
NM_001614.5(ACTG1):c.920C>T (p.Pro307Leu) rs782354322 0.00001
NM_001614.5(ACTG1):c.936G>A (p.Arg312=) rs1555666472 0.00001
NC_000017.11:g.81508819G>A
NC_000017.11:g.81512817C>G rs542961891
NM_001614.5(ACTG1):c.*130G>A rs782530017
NM_001614.5(ACTG1):c.*194A>C rs537839620
NM_001614.5(ACTG1):c.-2C>G
NM_001614.5(ACTG1):c.-48C>A rs567737230
NM_001614.5(ACTG1):c.-55G>A rs7503278
NM_001614.5(ACTG1):c.-5T>C rs782246678
NM_001614.5(ACTG1):c.-6-13C>T rs200070347
NM_001614.5(ACTG1):c.-6-1G>T rs2031861888
NM_001614.5(ACTG1):c.-6-26G>A rs118086302
NM_001614.5(ACTG1):c.-6-31C>G rs201960716
NM_001614.5(ACTG1):c.-6-31C>T rs201960716
NM_001614.5(ACTG1):c.-6-7C>T rs199699427
NM_001614.5(ACTG1):c.-6-83T>G rs8064532
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His) rs1555666392
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.1036C>T (p.Leu346=)
NM_001614.5(ACTG1):c.1051A>G (p.Thr351Ala) rs727502880
NM_001614.5(ACTG1):c.1086CGA[1] (p.Asp363del)
NM_001614.5(ACTG1):c.1089C>T (p.Asp363=)
NM_001614.5(ACTG1):c.123G>A (p.Gln41=)
NM_001614.5(ACTG1):c.124-4G>C rs782481421
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.131T>A (p.Met44Lys) rs886041280
NM_001614.5(ACTG1):c.134_142dup (p.Met47_Gly48insValGlyMet)
NM_001614.5(ACTG1):c.136G>T (p.Gly46Cys) rs2143784290
NM_001614.5(ACTG1):c.139A>G (p.Met47Val)
NM_001614.5(ACTG1):c.149A>G (p.Lys50Arg)
NM_001614.5(ACTG1):c.15C>A (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.165C>A (p.Gly55=) rs146402466
NM_001614.5(ACTG1):c.165C>G (p.Gly55=) rs146402466
NM_001614.5(ACTG1):c.174C>G (p.Ala58=) rs782205858
NM_001614.5(ACTG1):c.192C>A (p.Ile64=)
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile)
NM_001614.5(ACTG1):c.213T>G (p.Ile71Met) rs782047199
NM_001614.5(ACTG1):c.229A>G (p.Thr77Ala)
NM_001614.5(ACTG1):c.230C>G (p.Thr77Ser) rs2143783478
NM_001614.5(ACTG1):c.234C>T (p.Asn78=)
NM_001614.5(ACTG1):c.235T>C (p.Trp79Arg)
NM_001614.5(ACTG1):c.237G>A (p.Trp79Ter) rs2143783424
NM_001614.5(ACTG1):c.249G>A (p.Glu83=)
NM_001614.5(ACTG1):c.259C>T (p.His87Tyr) rs1568062594
NM_001614.5(ACTG1):c.277G>A (p.Glu93Lys) rs1568062529
NM_001614.5(ACTG1):c.280C>G (p.Leu94Val) rs782388764
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.318C>G (p.Thr106=) rs372370199
NM_001614.5(ACTG1):c.323C>T (p.Ala108Val) rs11549181
NM_001614.5(ACTG1):c.324C>T (p.Ala108=) rs550936698
NM_001614.5(ACTG1):c.325C>T (p.Pro109Ser)
NM_001614.5(ACTG1):c.327C>T (p.Pro109=)
NM_001614.5(ACTG1):c.349_352del (p.Glu117fs) rs2143782665
NM_001614.5(ACTG1):c.353A>T (p.Lys118Met) rs104894544
NM_001614.5(ACTG1):c.354G>C (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.354G>T (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.359C>G (p.Thr120Ser)
NM_001614.5(ACTG1):c.359C>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.363+111C>T rs780514084
NM_001614.5(ACTG1):c.363+115C>A rs545109300
NM_001614.5(ACTG1):c.363+31C>G rs199979742
NM_001614.5(ACTG1):c.363+52C>T rs373830909
NM_001614.5(ACTG1):c.363+56C>T rs202038633
NM_001614.5(ACTG1):c.363+72C>T rs782504453
NM_001614.5(ACTG1):c.364-99C>T rs370068875
NM_001614.5(ACTG1):c.364A>G (p.Ile122Val) rs281875330
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.414C>G (p.Ala138=)
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.424C>G (p.Leu142Val)
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.492C>T (p.Pro164=) rs1207365676
NM_001614.5(ACTG1):c.494T>C (p.Ile165Thr) rs2143778877
NM_001614.5(ACTG1):c.495C>A (p.Ile165=)
NM_001614.5(ACTG1):c.520G>T (p.Ala174Ser) rs587780274
NM_001614.5(ACTG1):c.525C>G (p.Ile175Met) rs146667866
NM_001614.5(ACTG1):c.526C>G (p.Leu176Val) rs782088589
NM_001614.5(ACTG1):c.541G>T (p.Ala181Ser)
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln) rs781945750
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.569T>C (p.Met190Thr)
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) rs186443800
NM_001614.5(ACTG1):c.577C>T (p.Leu193Phe)
NM_001614.5(ACTG1):c.598_611del (p.Phe200fs)
NM_001614.5(ACTG1):c.603C>T (p.Thr201=)
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) rs281875327
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) rs11549225
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.634A>G (p.Ile212Val) rs2143777933
NM_001614.5(ACTG1):c.637A>C (p.Lys213Gln) rs1057524703
NM_001614.5(ACTG1):c.645G>A (p.Lys215=)
NM_001614.5(ACTG1):c.648G>A (p.Leu216=)
NM_001614.5(ACTG1):c.670G>T (p.Glu224Ter) rs2143777663
NM_001614.5(ACTG1):c.685A>G (p.Thr229Ala)
NM_001614.5(ACTG1):c.689C>T (p.Ala230Val) rs782124831
NM_001614.5(ACTG1):c.701C>T (p.Ser234Phe) rs11549179
NM_001614.5(ACTG1):c.702T>C (p.Ser234=)
NM_001614.5(ACTG1):c.718T>C (p.Tyr240His) rs1555666640
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.733G>A (p.Gly245Ser)
NM_001614.5(ACTG1):c.737A>T (p.Gln246Leu) rs1568061110
NM_001614.5(ACTG1):c.742A>G (p.Ile248Val)
NM_001614.5(ACTG1):c.755A>T (p.Asn252Ile) rs886041873
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.761_781dup (p.Arg254_Ala260dup) rs2143776740
NM_001614.5(ACTG1):c.766C>A (p.Arg256=) rs281875329
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001614.5(ACTG1):c.767G>A (p.Arg256Gln) rs1555666624
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.786C>G (p.Phe262Leu)
NM_001614.5(ACTG1):c.787C>T (p.Gln263Ter)
NM_001614.5(ACTG1):c.790C>T (p.Pro264Ser)
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu) rs104894546
NM_001614.5(ACTG1):c.802+34C>A rs201229276
NM_001614.5(ACTG1):c.802+37C>T rs371063696
NM_001614.5(ACTG1):c.802+3A>G rs1568060971
NM_001614.5(ACTG1):c.805A>G (p.Met269Val) rs2143775987
NM_001614.5(ACTG1):c.807G>T (p.Met269Ile)
NM_001614.5(ACTG1):c.824A>T (p.His275Leu) rs2143775813
NM_001614.5(ACTG1):c.82C>G (p.Arg28Gly)
NM_001614.5(ACTG1):c.842C>G (p.Ser281Cys) rs2143775658
NM_001614.5(ACTG1):c.843dup (p.Ile282fs)
NM_001614.5(ACTG1):c.847A>G (p.Met283Val) rs1555666509
NM_001614.5(ACTG1):c.859G>A (p.Val287Met) rs2143775561
NM_001614.5(ACTG1):c.863A>G (p.Asp288Gly) rs886041756
NM_001614.5(ACTG1):c.868C>T (p.Arg290Cys) rs1555666501
NM_001614.5(ACTG1):c.871A>G (p.Lys291Glu)
NM_001614.5(ACTG1):c.872A>G (p.Lys291Arg) rs1568060667
NM_001614.5(ACTG1):c.890C>T (p.Thr297Met)
NM_001614.5(ACTG1):c.910A>G (p.Thr304Ala)
NM_001614.5(ACTG1):c.932A>T (p.Asp311Val)
NM_001614.5(ACTG1):c.940C>G (p.Gln314Glu) rs1555666471
NM_001614.5(ACTG1):c.981C>T (p.Ile327=) rs782329552
NM_001614.5(ACTG1):c.984+13dup rs1555666452
NM_001614.5(ACTG1):c.985-40del rs59886367
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001614.5(ACTG1):c.991G>A (p.Ala331Thr) rs11549200
NM_001614.5(ACTG1):c.996C>A (p.Pro332=) rs200089021
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)

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.