ClinVar Miner

List of variants in gene ACTG1 reported as pathogenic

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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.1109T>C (p.Val370Ala) rs104894547
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.209C>T (p.Pro70Leu) rs2143783696
NM_001614.5(ACTG1):c.266C>T (p.Thr89Ile) rs28999111
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>T (p.Thr120Ile) rs281875325
NM_001614.5(ACTG1):c.404C>T (p.Ala135Val) rs11549190
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe) rs281875326
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.608C>A (p.Thr203Lys) rs281875327
NM_001614.5(ACTG1):c.628C>T (p.Arg210Cys) rs2031759596
NM_001614.5(ACTG1):c.629G>A (p.Arg210His) rs1555666709
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
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.791C>T (p.Pro264Leu) rs104894546
NM_001614.5(ACTG1):c.830C>T (p.Thr277Ile) rs2143775764
NM_001614.5(ACTG1):c.833C>T (p.Thr278Ile) rs28999112
NM_001614.5(ACTG1):c.994C>G (p.Pro332Ala) rs104894545

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