ClinVar Miner

List of variants in gene ACTG1 reported as likely pathogenic

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_001614.5(ACTG1):c.1002G>C (p.Glu334Asp) rs113262912
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.1013C>G (p.Ser338Trp) rs1192977984
NM_001614.5(ACTG1):c.1036C>G (p.Leu346Val) rs782217473
NM_001614.5(ACTG1):c.118C>T (p.His40Tyr) rs1057518673
NM_001614.5(ACTG1):c.131T>A (p.Met44Lys) rs886041280
NM_001614.5(ACTG1):c.151G>A (p.Asp51Asn)
NM_001614.5(ACTG1):c.188G>C (p.Gly63Ala)
NM_001614.5(ACTG1):c.197C>T (p.Thr66Ile)
NM_001614.5(ACTG1):c.206A>G (p.Tyr69Cys) rs781953399
NM_001614.5(ACTG1):c.277G>A (p.Glu93Lys) rs1568062529
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.430G>A (p.Ala144Thr) rs11549196
NM_001614.5(ACTG1):c.431C>T (p.Ala144Val)
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe) rs2143779274
NM_001614.5(ACTG1):c.439C>T (p.Arg147Cys) rs2031775804
NM_001614.5(ACTG1):c.440G>A (p.Arg147His) rs2143779222
NM_001614.5(ACTG1):c.457A>G (p.Met153Val) rs1555666789
NM_001614.5(ACTG1):c.459G>A (p.Met153Ile) rs2143779081
NM_001614.5(ACTG1):c.493A>G (p.Ile165Val) rs2031770749
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val) rs797044730
NM_001614.5(ACTG1):c.547C>T (p.Arg183Trp) rs1362994447
NM_001614.5(ACTG1):c.598T>A (p.Phe200Ile) rs587780275
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met) rs281875327
NM_001614.5(ACTG1):c.611C>G (p.Ala204Gly) rs11549225
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp) rs1598548614
NM_001614.5(ACTG1):c.617G>A (p.Arg206Gln) rs1555666715
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.637A>C (p.Lys213Gln) rs1057524703
NM_001614.5(ACTG1):c.714_716del (p.Lys238_Ser239delinsAsn)
NM_001614.5(ACTG1):c.721G>A (p.Glu241Lys) rs267606631
NM_001614.5(ACTG1):c.728C>T (p.Pro243Leu) rs1598548256
NM_001614.5(ACTG1):c.760C>T (p.Arg254Trp) rs281875328
NM_001614.5(ACTG1):c.761_781dup (p.Arg254_Ala260dup) rs2143776740
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp) rs281875329
NM_001614.5(ACTG1):c.824A>T (p.His275Leu) rs2143775813
NM_001614.5(ACTG1):c.826G>A (p.Glu276Lys) rs2143775790
NM_001614.5(ACTG1):c.847A>G (p.Met283Val) rs1555666509
NM_001614.5(ACTG1):c.848T>C (p.Met283Thr) rs2143775617
NM_001614.5(ACTG1):c.863A>G (p.Asp288Gly) rs886041756
NM_001614.5(ACTG1):c.983A>G (p.Lys328Arg)
NM_001614.5(ACTG1):c.998C>G (p.Pro333Arg)

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