ClinVar Miner

List of variants in gene ACTG1 studied for not specified

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Gene type:
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Total variants: 102
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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.1026T>C (p.Gly342=) rs1139406 0.04214
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.399C>T (p.Tyr133=) rs2230158 0.01567
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_001614.5(ACTG1):c.124-14G>A rs115307446 0.01103
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
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.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.18C>T (p.Ala6=) rs145211830 0.00128
NM_001614.5(ACTG1):c.-32C>T rs75739711 0.00122
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.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.364-8C>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.345C>T (p.Asn115=) rs149057480 0.00021
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001614.5(ACTG1):c.1086C>T (p.Tyr362=) rs144114953 0.00009
NM_001614.5(ACTG1):c.124-17C>T rs374327916 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001614.5(ACTG1):c.-1A>G rs781801921 0.00008
NM_001614.5(ACTG1):c.669C>T (p.Phe223=) rs373099591 0.00008
NM_001614.5(ACTG1):c.168C>T (p.Asp56=) rs368299537 0.00007
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.363+7C>G rs782205549 0.00006
NM_001614.5(ACTG1):c.*18G>A rs567869370 0.00004
NM_001614.5(ACTG1):c.255C>T (p.Ile85=) rs147001458 0.00004
NM_001614.5(ACTG1):c.393C>T (p.Ala131=) rs11150794 0.00004
NM_001614.5(ACTG1):c.618G>A (p.Arg206=) rs375061969 0.00004
NM_001614.5(ACTG1):c.803-13C>T rs376658586 0.00004
NM_001614.5(ACTG1):c.498C>T (p.Tyr166=) rs373572370 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.909C>T (p.Thr303=) rs187127467 0.00003
NM_001614.5(ACTG1):c.957C>T (p.Ala319=) rs377745600 0.00003
NM_001614.5(ACTG1):c.*11C>T rs782341016 0.00002
NM_001614.5(ACTG1):c.1110C>A (p.Val370=) rs727502879 0.00002
NM_001614.5(ACTG1):c.945G>A (p.Lys315=) rs727502881 0.00002
NM_001614.5(ACTG1):c.123+8G>A rs536476533 0.00001
NM_001614.5(ACTG1):c.150G>A (p.Lys50=) rs1482374138 0.00001
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) rs1157976912 0.00001
NM_001614.5(ACTG1):c.390G>A (p.Pro130=) rs561518636 0.00001
NM_001614.5(ACTG1):c.405C>T (p.Ala135=) rs576214455 0.00001
NM_001614.5(ACTG1):c.519C>T (p.His173=) rs781859294 0.00001
NM_001614.5(ACTG1):c.636C>A (p.Ile212=) rs727502883 0.00001
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) rs782187026 0.00001
NM_001614.5(ACTG1):c.828G>A (p.Glu276=) rs727504806 0.00001
NM_001614.5(ACTG1):c.895C>T (p.Leu299=) rs781869067 0.00001
NM_001614.5(ACTG1):c.963G>A (p.Ala321=) rs782371233 0.00001
NM_001614.5(ACTG1):c.-23G>A rs782247430
NM_001614.5(ACTG1):c.-39C>T rs1139403
NM_001614.5(ACTG1):c.-46C>T rs781836332
NM_001614.5(ACTG1):c.-47A>G rs782107098
NM_001614.5(ACTG1):c.-50C>T rs782569038
NM_001614.5(ACTG1):c.-6-14C>G rs188773798
NM_001614.5(ACTG1):c.-6-14C>T rs188773798
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.1039G>T (p.Ala347Ser) rs1555666373
NM_001614.5(ACTG1):c.1041C>T (p.Ala347=) rs375903517
NM_001614.5(ACTG1):c.1051A>C (p.Thr351Pro) rs727502880
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.270C>A (p.Phe90Leu)
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.324C>T (p.Ala108=) rs550936698
NM_001614.5(ACTG1):c.333C>T (p.Asn111=) rs727502884
NM_001614.5(ACTG1):c.360T>G (p.Thr120=) rs1555667040
NM_001614.5(ACTG1):c.363+12_363+13delinsAA
NM_001614.5(ACTG1):c.364-19G>T rs374818782
NM_001614.5(ACTG1):c.377C>T (p.Thr126Ile) rs876657740
NM_001614.5(ACTG1):c.409C>G (p.Gln137Glu) rs876657741
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.432C>T (p.Ala144=) rs372748659
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.548G>A (p.Arg183Gln) rs781945750
NM_001614.5(ACTG1):c.558C>G (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) rs186443800
NM_001614.5(ACTG1):c.803-15G>T
NM_001614.5(ACTG1):c.803-20G>A rs374821448
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.853T>C (p.Cys285Arg) rs727502882
NM_001614.5(ACTG1):c.879G>A (p.Leu293=) rs781806224
NM_001614.5(ACTG1):c.985-11T>C rs1555666410
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001614.5(ACTG1):c.996C>A (p.Pro332=) rs200089021

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