ClinVar Miner

List of variants in gene ACTA1 reported as pathogenic for Nemaline myopathy 3

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Total variants: 33
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HGVS dbSNP
NM_001100.3(ACTA1):c.1074G>T (p.Trp358Cys) rs587777354
NM_001100.3(ACTA1):c.1075A>C (p.Ile359Leu) rs121909524
NM_001100.3(ACTA1):c.109G>C (p.Val37Leu)
NM_001100.3(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.3(ACTA1):c.1132T>C (p.Ter378Gln) rs1553255288
NM_001100.3(ACTA1):c.133G>T (p.Val45Phe) rs398123562
NM_001100.3(ACTA1):c.143G>A (p.Gly48Asp) rs367543049
NM_001100.3(ACTA1):c.146T>G (p.Met49Arg) rs1553255506
NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.3(ACTA1):c.275_277del (p.Phe92del) rs1558082053
NM_001100.3(ACTA1):c.287T>C (p.Leu96Pro) rs121909519
NM_001100.3(ACTA1):c.350A>G (p.Asn117Ser) rs121909520
NM_001100.3(ACTA1):c.36C>A (p.Cys12Ter)
NM_001100.3(ACTA1):c.414C>G (p.Ile138Met) rs121909526
NM_001100.3(ACTA1):c.419C>G (p.Ala140Gly) rs1435160117
NM_001100.3(ACTA1):c.449C>G (p.Thr150Ser) rs1553255479
NM_001100.3(ACTA1):c.493G>A (p.Val165Met) rs121909522
NM_001100.3(ACTA1):c.493G>T (p.Val165Leu) rs121909522
NM_001100.3(ACTA1):c.553C>T (p.Arg185Cys) rs1064794287
NM_001100.3(ACTA1):c.557A>G (p.Asp186Gly)
NM_001100.3(ACTA1):c.616+1G>A rs111812550
NM_001100.3(ACTA1):c.616G>A (p.Ala206Thr) rs1057521119
NM_001100.3(ACTA1):c.660C>A (p.Tyr220Ter) rs201823652
NM_001100.3(ACTA1):c.712del (p.Leu238fs)
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.803T>C (p.Phe268Ser) rs1558081605
NM_001100.3(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.3(ACTA1):c.808G>T (p.Gly270Cys) rs121909525
NM_001100.3(ACTA1):c.809-2A>T rs1301902450
NM_001100.3(ACTA1):c.84_85insT (p.Pro29fs) rs753923758
NM_001100.3(ACTA1):c.984G>C (p.Lys328Asn) rs398122936
NM_001100.3(ACTA1):c.[222G>T;223C>T]
NM_001100.4(ACTA1):c.489C>A (p.His163Gln)

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