ClinVar Miner

List of variants in gene ACTA1 reported by OMIM

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001100.4(ACTA1):c.436del (p.Ala146fs) rs1395648272 0.00005
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_001100.4(ACTA1):c.287T>C (p.Leu96Pro) rs121909519 0.00001
NM_001100.3(ACTA1):c.[222G>T;223C>T]
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001100.4(ACTA1):c.1007A>C (p.Glu336Ala) rs121909528
NM_001100.4(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.4(ACTA1):c.1075A>C (p.Ile359Leu) rs121909524
NM_001100.4(ACTA1):c.121C>T (p.Arg41Ter)
NM_001100.4(ACTA1):c.124C>T (p.His42Tyr) rs2102736554
NM_001100.4(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.4(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.4(ACTA1):c.460G>C (p.Val154Leu) rs768144106
NM_001100.4(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.4(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg) rs121909521
NM_001100.4(ACTA1):c.541del (p.Asp181fs) rs759242559
NM_001100.4(ACTA1):c.591G>T (p.Glu197Asp) rs869312739
NM_001100.4(ACTA1):c.668T>C (p.Leu223Pro) rs121909530
NM_001100.4(ACTA1):c.7G>T (p.Asp3Tyr) rs121909527
NM_001100.4(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.4(ACTA1):c.809-1G>T
NM_001100.4(ACTA1):c.863A>G (p.Asp288Gly)
NM_001100.4(ACTA1):c.881A>T (p.Asp294Val) rs121909529
NM_001100.4(ACTA1):c.984G>C (p.Lys328Asn) rs398122936

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