ClinVar Miner

List of variants in gene ACTG1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 50
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HGVS dbSNP gnomAD frequency
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.684C>T (p.Ala228=) rs143125497 0.00195
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
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.363+5G>A rs116329164 0.00061
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.126C>T (p.Gly42=) rs11549197 0.00029
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.803-3T>C rs369438865 0.00019
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) rs141964376 0.00009
NM_001614.5(ACTG1):c.858C>T (p.Asp286=) rs201277295 0.00009
NM_001614.5(ACTG1):c.486G>A (p.Thr162=) rs782442814 0.00008
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466 0.00006
NM_001614.5(ACTG1):c.318C>T (p.Thr106=) rs372370199 0.00006
NM_001614.5(ACTG1):c.609G>A (p.Thr203=) rs148528303 0.00006
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_001614.5(ACTG1):c.888C>T (p.Asn296=) rs782140372 0.00001
NC_000017.11:g.81508819G>A
NM_001614.5(ACTG1):c.1003C>T (p.Arg335Cys) rs1568060200
NM_001614.5(ACTG1):c.1036C>T (p.Leu346=)
NM_001614.5(ACTG1):c.1089C>T (p.Asp363=)
NM_001614.5(ACTG1):c.123G>A (p.Gln41=)
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.234C>T (p.Asn78=)
NM_001614.5(ACTG1):c.318C>G (p.Thr106=) rs372370199
NM_001614.5(ACTG1):c.324C>T (p.Ala108=) rs550936698
NM_001614.5(ACTG1):c.325C>T (p.Pro109Ser)
NM_001614.5(ACTG1):c.354G>T (p.Lys118Asn) rs267606630
NM_001614.5(ACTG1):c.363+115C>A rs545109300
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.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.603C>T (p.Thr201=)
NM_001614.5(ACTG1):c.634A>G (p.Ile212Val) rs2143777933
NM_001614.5(ACTG1):c.648G>A (p.Leu216=)
NM_001614.5(ACTG1):c.702T>C (p.Ser234=)
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.842C>G (p.Ser281Cys) rs2143775658
NM_001614.5(ACTG1):c.890C>T (p.Thr297Met)

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