ClinVar Miner

List of variants in gene ACTG1 studied for auditory system disease

Included ClinVar conditions (549):
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Gene type:
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Total variants: 68
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HGVS dbSNP
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1013C>T (p.Ser338Leu) rs1192977984
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193
NM_001614.5(ACTG1):c.1103C>T (p.Ser368Phe) rs1555666360
NM_001614.5(ACTG1):c.1109T>C (p.Val370Ala) rs104894547
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197
NM_001614.5(ACTG1):c.128T>C (p.Val43Ala)
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220
NM_001614.5(ACTG1):c.180C>T (p.Ser60=) rs144338558
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830
NM_001614.5(ACTG1):c.201G>C (p.Leu67=) rs782754511
NM_001614.5(ACTG1):c.210C>T (p.Pro70=) rs201275526
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) rs28999111
NM_001614.5(ACTG1):c.285C>T (p.Arg95=) rs782236244
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480
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.363+7C>G rs782205549
NM_001614.5(ACTG1):c.364-8C>T rs201748657
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val)
NM_001614.5(ACTG1):c.521C>G (p.Ala174Gly) rs727504862
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_001614.5(ACTG1):c.657C>T (p.Val219=) rs782248094
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001614.5(ACTG1):c.773C>T (p.Pro258Leu) rs11549191
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345
NM_001614.5(ACTG1):c.791C>T (p.Pro264Leu) rs104894546
NM_001614.5(ACTG1):c.795C>T (p.Ser265=) rs146493032
NM_001614.5(ACTG1):c.802+10G>A rs1555666580
NM_001614.5(ACTG1):c.803-4C>T rs782608976
NM_001614.5(ACTG1):c.803-6C>T rs199600452
NM_001614.5(ACTG1):c.803-7C>T rs150136833
NM_001614.5(ACTG1):c.831C>T (p.Thr277=)
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) rs28999112
NM_001614.5(ACTG1):c.842C>G (p.Ser281Cys)
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989
NM_001614.5(ACTG1):c.94C>T (p.Pro32Ser) rs1598551290
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869
NM_001614.5(ACTG1):c.984+7C>T rs369691985
NM_001614.5(ACTG1):c.985-5T>C rs370546734
NM_001614.5(ACTG1):c.985-7dup rs782289893
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) rs104894545

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