ClinVar Miner

List of variants reported as pathogenic for Nemaline myopathy 3 by Invitae

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Total variants: 19
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HGVS dbSNP
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.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.36C>A (p.Cys12Ter) rs1025502215
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.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.803T>C (p.Phe268Ser) rs1558081605
NM_001100.3(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.3(ACTA1):c.84_85insT (p.Pro29fs) rs753923758
NM_001100.4(ACTA1):c.712del (p.Leu238fs)

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