ClinVar Miner

List of variants in gene ACTG1 reported as likely benign for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 255
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_001614.5(ACTG1):c.363+5G>A rs116329164 0.00061
NM_001614.5(ACTG1):c.1107C>T (p.Ile369=) rs372665803 0.00035
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.654C>T (p.Tyr218=) rs182162229 0.00024
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526 0.00021
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869 0.00016
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) rs782754511 0.00014
NM_001614.5(ACTG1):c.561C>T (p.Asp187=) rs782649322 0.00011
NM_001614.5(ACTG1):c.687C>T (p.Thr229=) rs201036516 0.00011
NM_001614.5(ACTG1):c.984+7C>T rs369691985 0.00011
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.858C>T (p.Asp286=) rs201277295 0.00009
NM_001614.5(ACTG1):c.364-20C>T rs138210010 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.981C>A (p.Ile327=) rs782329552 0.00007
NM_001614.5(ACTG1):c.124-9C>T rs376850595 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.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.903C>T (p.Gly301=) rs201963572 0.00006
NM_001614.5(ACTG1):c.222C>T (p.Gly74=) rs368844224 0.00005
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) rs146493032 0.00005
NM_001614.5(ACTG1):c.802+8T>G rs373268725 0.00005
NM_001614.5(ACTG1):c.924C>T (p.Gly308=) rs371738013 0.00005
NM_001614.5(ACTG1):c.255C>T (p.Ile85=) rs147001458 0.00004
NM_001614.5(ACTG1):c.363+9C>T rs200000684 0.00004
NM_001614.5(ACTG1):c.393C>T (p.Ala131=) rs11150794 0.00004
NM_001614.5(ACTG1):c.510C>T (p.Ala170=) rs558086995 0.00004
NM_001614.5(ACTG1):c.618G>A (p.Arg206=) rs375061969 0.00004
NM_001614.5(ACTG1):c.666C>T (p.Asp222=) rs376839455 0.00004
NM_001614.5(ACTG1):c.803-13C>T rs376658586 0.00004
NM_001614.5(ACTG1):c.1053C>T (p.Thr351=) rs148267855 0.00003
NM_001614.5(ACTG1):c.1122C>T (p.Cys374=) rs369020026 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.657C>T (p.Val219=) rs782248094 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.803-4C>T rs782608976 0.00003
NM_001614.5(ACTG1):c.921G>A (p.Pro307=) rs782215635 0.00003
NM_001614.5(ACTG1):c.985-20G>A rs376114200 0.00003
NM_001614.5(ACTG1):c.1023C>T (p.Ile341=) rs140865670 0.00002
NM_001614.5(ACTG1):c.1110C>A (p.Val370=) rs727502879 0.00002
NM_001614.5(ACTG1):c.124-16G>A rs782370155 0.00002
NM_001614.5(ACTG1):c.363+20C>G rs782132566 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.1008G>A (p.Lys336=) rs1555666390 0.00001
NM_001614.5(ACTG1):c.1101C>T (p.Pro367=) rs782349660 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.150G>A (p.Lys50=) rs1482374138 0.00001
NM_001614.5(ACTG1):c.285C>T (p.Arg95=) rs782236244 0.00001
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) rs1157976912 0.00001
NM_001614.5(ACTG1):c.310C>T (p.Leu104=) rs782549602 0.00001
NM_001614.5(ACTG1):c.364-13T>C rs1555666841 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.447T>C (p.Thr149=) rs1555666796 0.00001
NM_001614.5(ACTG1):c.519C>T (p.His173=) rs781859294 0.00001
NM_001614.5(ACTG1):c.642G>A (p.Glu214=) rs782187026 0.00001
NM_001614.5(ACTG1):c.802+10G>A rs1555666580 0.00001
NM_001614.5(ACTG1):c.803-5C>T rs551818809 0.00001
NM_001614.5(ACTG1):c.828G>A (p.Glu276=) rs727504806 0.00001
NM_001614.5(ACTG1):c.888C>T (p.Asn296=) rs782140372 0.00001
NM_001614.5(ACTG1):c.936G>A (p.Arg312=) rs1555666472 0.00001
NM_001614.5(ACTG1):c.1017G>A (p.Val339=)
NM_001614.5(ACTG1):c.1036C>T (p.Leu346=)
NM_001614.5(ACTG1):c.1041C>G (p.Ala347=)
NM_001614.5(ACTG1):c.1044A>T (p.Ser348=)
NM_001614.5(ACTG1):c.1050C>T (p.Ser350=)
NM_001614.5(ACTG1):c.1053C>G (p.Thr351=) rs148267855
NM_001614.5(ACTG1):c.1056C>T (p.Phe352=) rs2031713483
NM_001614.5(ACTG1):c.1077G>A (p.Lys359=)
NM_001614.5(ACTG1):c.1089C>T (p.Asp363=)
NM_001614.5(ACTG1):c.1098C>G (p.Gly366=)
NM_001614.5(ACTG1):c.1098C>T (p.Gly366=)
NM_001614.5(ACTG1):c.1104C>G (p.Ser368=)
NM_001614.5(ACTG1):c.1110C>T (p.Val370=) rs727502879
NM_001614.5(ACTG1):c.114C>T (p.Pro38=)
NM_001614.5(ACTG1):c.123+15C>T
NM_001614.5(ACTG1):c.123+16C>T
NM_001614.5(ACTG1):c.123+18C>T
NM_001614.5(ACTG1):c.123+7G>A
NM_001614.5(ACTG1):c.124-19G>A
NM_001614.5(ACTG1):c.124-20_124-16dup
NM_001614.5(ACTG1):c.124-4G>C rs782481421
NM_001614.5(ACTG1):c.124-6C>T
NM_001614.5(ACTG1):c.124-9C>A
NM_001614.5(ACTG1):c.128T>C (p.Val43Ala) rs1555667138
NM_001614.5(ACTG1):c.153C>T (p.Asp51=)
NM_001614.5(ACTG1):c.156C>T (p.Ser52=)
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
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.174C>T (p.Ala58=)
NM_001614.5(ACTG1):c.189C>T (p.Gly63=)
NM_001614.5(ACTG1):c.192C>A (p.Ile64=)
NM_001614.5(ACTG1):c.195G>A (p.Leu65=)
NM_001614.5(ACTG1):c.198C>T (p.Thr66=)
NM_001614.5(ACTG1):c.199C>T (p.Leu67=)
NM_001614.5(ACTG1):c.201G>T (p.Leu67=)
NM_001614.5(ACTG1):c.219T>C (p.His73=)
NM_001614.5(ACTG1):c.231C>G (p.Thr77=)
NM_001614.5(ACTG1):c.234C>T (p.Asn78=)
NM_001614.5(ACTG1):c.240C>T (p.Asp80=)
NM_001614.5(ACTG1):c.243C>T (p.Asp81=)
NM_001614.5(ACTG1):c.252G>A (p.Lys84=)
NM_001614.5(ACTG1):c.267C>G (p.Thr89=)
NM_001614.5(ACTG1):c.276C>T (p.Asn92=)
NM_001614.5(ACTG1):c.279G>A (p.Glu93=)
NM_001614.5(ACTG1):c.300G>A (p.Glu100=)
NM_001614.5(ACTG1):c.313C>T (p.Leu105=)
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.324C>G (p.Ala108=)
NM_001614.5(ACTG1):c.336C>G (p.Pro112=)
NM_001614.5(ACTG1):c.336C>T (p.Pro112=)
NM_001614.5(ACTG1):c.339G>A (p.Lys113=)
NM_001614.5(ACTG1):c.342C>T (p.Ala114=)
NM_001614.5(ACTG1):c.348A>G (p.Arg116=)
NM_001614.5(ACTG1):c.363+10G>T
NM_001614.5(ACTG1):c.363+11G>A
NM_001614.5(ACTG1):c.363+11G>C rs2031818208
NM_001614.5(ACTG1):c.363+16C>T
NM_001614.5(ACTG1):c.363+17G>A rs782044225
NM_001614.5(ACTG1):c.363+19C>T
NM_001614.5(ACTG1):c.363+20C>T rs782132566
NM_001614.5(ACTG1):c.363+7C>T
NM_001614.5(ACTG1):c.364-15C>G
NM_001614.5(ACTG1):c.364-15C>T
NM_001614.5(ACTG1):c.364-16C>T
NM_001614.5(ACTG1):c.364-17C>G
NM_001614.5(ACTG1):c.364-17C>T
NM_001614.5(ACTG1):c.364-18C>T
NM_001614.5(ACTG1):c.364-19G>A
NM_001614.5(ACTG1):c.364-19G>C
NM_001614.5(ACTG1):c.364-19G>T rs374818782
NM_001614.5(ACTG1):c.364-9_364-3dup
NM_001614.5(ACTG1):c.375G>A (p.Glu125=)
NM_001614.5(ACTG1):c.378C>G (p.Thr126=)
NM_001614.5(ACTG1):c.387C>A (p.Thr129=) rs2143779666
NM_001614.5(ACTG1):c.414C>A (p.Ala138=)
NM_001614.5(ACTG1):c.414C>G (p.Ala138=)
NM_001614.5(ACTG1):c.420G>A (p.Leu140=)
NM_001614.5(ACTG1):c.423C>T (p.Ser141=)
NM_001614.5(ACTG1):c.426C>G (p.Leu142=) rs112043655
NM_001614.5(ACTG1):c.426C>T (p.Leu142=)
NM_001614.5(ACTG1):c.432C>T (p.Ala144=) rs372748659
NM_001614.5(ACTG1):c.444C>T (p.Thr148=)
NM_001614.5(ACTG1):c.450C>T (p.Gly150=)
NM_001614.5(ACTG1):c.453T>C (p.Ile151=)
NM_001614.5(ACTG1):c.456C>G (p.Val152=) rs11549208
NM_001614.5(ACTG1):c.456C>T (p.Val152=)
NM_001614.5(ACTG1):c.474G>T (p.Gly158=)
NM_001614.5(ACTG1):c.483C>T (p.His161=)
NM_001614.5(ACTG1):c.489G>C (p.Val163=)
NM_001614.5(ACTG1):c.507C>T (p.Tyr169=)
NM_001614.5(ACTG1):c.513C>A (p.Leu171=)
NM_001614.5(ACTG1):c.522C>T (p.Ala174=)
NM_001614.5(ACTG1):c.525C>A (p.Ile175=)
NM_001614.5(ACTG1):c.525C>T (p.Ile175=)
NM_001614.5(ACTG1):c.526C>T (p.Leu176=)
NM_001614.5(ACTG1):c.537C>T (p.Asp179=)
NM_001614.5(ACTG1):c.553C>T (p.Leu185=)
NM_001614.5(ACTG1):c.558C>A (p.Thr186=)
NM_001614.5(ACTG1):c.558C>G (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.567C>T (p.Leu189=)
NM_001614.5(ACTG1):c.576C>T (p.Ile192=) rs186443800
NM_001614.5(ACTG1):c.585G>A (p.Glu195=) rs1598548706
NM_001614.5(ACTG1):c.591C>G (p.Gly197=)
NM_001614.5(ACTG1):c.600C>T (p.Phe200=)
NM_001614.5(ACTG1):c.603C>T (p.Thr201=)
NM_001614.5(ACTG1):c.612C>G (p.Ala204=)
NM_001614.5(ACTG1):c.624C>A (p.Ile208=)
NM_001614.5(ACTG1):c.630C>T (p.Arg210=)
NM_001614.5(ACTG1):c.636C>T (p.Ile212=)
NM_001614.5(ACTG1):c.645G>A (p.Lys215=)
NM_001614.5(ACTG1):c.660C>T (p.Ala220=)
NM_001614.5(ACTG1):c.675G>A (p.Gln225=)
NM_001614.5(ACTG1):c.693A>T (p.Ala231=)
NM_001614.5(ACTG1):c.699C>G (p.Ser233=)
NM_001614.5(ACTG1):c.699C>T (p.Ser233=)
NM_001614.5(ACTG1):c.706C>T (p.Leu236=)
NM_001614.5(ACTG1):c.723G>A (p.Glu241=)
NM_001614.5(ACTG1):c.724C>T (p.Leu242=)
NM_001614.5(ACTG1):c.747C>T (p.Thr249=)
NM_001614.5(ACTG1):c.771T>C (p.Cys257=)
NM_001614.5(ACTG1):c.780G>C (p.Ala260=)
NM_001614.5(ACTG1):c.792T>C (p.Pro264=)
NM_001614.5(ACTG1):c.799C>T (p.Leu267=)
NM_001614.5(ACTG1):c.802+15C>T
NM_001614.5(ACTG1):c.802+7G>A
NM_001614.5(ACTG1):c.803-11C>T
NM_001614.5(ACTG1):c.803-18del
NM_001614.5(ACTG1):c.803-20G>A rs374821448
NM_001614.5(ACTG1):c.803-20G>C rs374821448
NM_001614.5(ACTG1):c.803-4C>G
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.803-9G>A
NM_001614.5(ACTG1):c.804T>C (p.Gly268=)
NM_001614.5(ACTG1):c.813T>C (p.Ser271=)
NM_001614.5(ACTG1):c.819C>T (p.Gly273=)
NM_001614.5(ACTG1):c.831C>T (p.Thr277=) rs1555666523
NM_001614.5(ACTG1):c.834C>T (p.Thr278=)
NM_001614.5(ACTG1):c.837C>T (p.Phe279=)
NM_001614.5(ACTG1):c.840C>T (p.Asn280=)
NM_001614.5(ACTG1):c.846C>T (p.Ile282=)
NM_001614.5(ACTG1):c.852G>A (p.Lys284=)
NM_001614.5(ACTG1):c.855T>C (p.Cys285=)
NM_001614.5(ACTG1):c.864C>T (p.Asp288=)
NM_001614.5(ACTG1):c.876C>T (p.Asp292=)
NM_001614.5(ACTG1):c.882C>T (p.Tyr294=)
NM_001614.5(ACTG1):c.900G>A (p.Ser300=)
NM_001614.5(ACTG1):c.906C>T (p.Gly302=)
NM_001614.5(ACTG1):c.909C>A (p.Thr303=)
NM_001614.5(ACTG1):c.912C>T (p.Thr304=)
NM_001614.5(ACTG1):c.930C>G (p.Ala310=)
NM_001614.5(ACTG1):c.933C>T (p.Asp311=)
NM_001614.5(ACTG1):c.958C>T (p.Leu320=)
NM_001614.5(ACTG1):c.960G>C (p.Leu320=)
NM_001614.5(ACTG1):c.984+12G>A
NM_001614.5(ACTG1):c.984+13G>A
NM_001614.5(ACTG1):c.984+13G>C
NM_001614.5(ACTG1):c.984+17G>C
NM_001614.5(ACTG1):c.984+18_984+20del
NM_001614.5(ACTG1):c.984+19G>A
NM_001614.5(ACTG1):c.984+20G>A
NM_001614.5(ACTG1):c.984+7C>G
NM_001614.5(ACTG1):c.984+8G>A
NM_001614.5(ACTG1):c.985-10G>A
NM_001614.5(ACTG1):c.985-10G>C
NM_001614.5(ACTG1):c.985-16C>T
NM_001614.5(ACTG1):c.985-25_985-10dup
NM_001614.5(ACTG1):c.985-5T>G
NM_001614.5(ACTG1):c.985-5dup rs782289893
NM_001614.5(ACTG1):c.990C>A (p.Ile330=)
NM_001614.5(ACTG1):c.990C>T (p.Ile330=)
NM_001614.5(ACTG1):c.996C>A (p.Pro332=) rs200089021
NM_001614.5(ACTG1):c.9A>G (p.Glu3=)

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