ClinVar Miner

List of variants studied for Nemaline myopathy 3 by Invitae

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Total variants: 71
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HGVS dbSNP
NM_001100.3(ACTA1):c.1001C>T (p.Pro334Leu) rs1553255312
NM_001100.3(ACTA1):c.1003C>G (p.Pro335Ala) rs1558081384
NM_001100.3(ACTA1):c.1004C>T (p.Pro335Leu)
NM_001100.3(ACTA1):c.1014A>C (p.Lys338Asn) rs1553255306
NM_001100.3(ACTA1):c.1031G>A (p.Gly344Asp) rs1558081360
NM_001100.3(ACTA1):c.1054T>C (p.Ser352Pro) rs1553255301
NM_001100.3(ACTA1):c.109G>C (p.Val37Leu)
NM_001100.3(ACTA1):c.109G>T (p.Val37Leu) rs1553255521
NM_001100.3(ACTA1):c.1109C>A (p.Ser370Tyr) rs1553255290
NM_001100.3(ACTA1):c.1123A>G (p.Lys375Glu)
NM_001100.3(ACTA1):c.1125A>G (p.Lys375=) rs142311664
NM_001100.3(ACTA1):c.1132T>C (p.Ter378Gln) rs1553255288
NM_001100.3(ACTA1):c.121C>G (p.Arg41Gly)
NM_001100.3(ACTA1):c.130-9G>T rs1553255511
NM_001100.3(ACTA1):c.132C>T (p.Gly44=) rs146956806
NM_001100.3(ACTA1):c.142G>A (p.Gly48Ser) rs794727488
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.148G>T (p.Gly50Cys) rs1558082103
NM_001100.3(ACTA1):c.168G>A (p.Val56=)
NM_001100.3(ACTA1):c.16G>A (p.Glu6Lys) rs367543048
NM_001100.3(ACTA1):c.172G>A (p.Asp58Asn) rs1085308014
NM_001100.3(ACTA1):c.197T>A (p.Ile66Asn) rs1553255502
NM_001100.3(ACTA1):c.24C>A (p.Thr8=) rs762659680
NM_001100.3(ACTA1):c.275_277del (p.Phe92del) rs1558082053
NM_001100.3(ACTA1):c.283G>A (p.Glu95Lys)
NM_001100.3(ACTA1):c.36C>A (p.Cys12Ter)
NM_001100.3(ACTA1):c.37G>A (p.Asp13Asn)
NM_001100.3(ACTA1):c.389A>G (p.Asn130Ser) rs766934634
NM_001100.3(ACTA1):c.402G>A (p.Met134Ile) rs1553255486
NM_001100.3(ACTA1):c.419C>G (p.Ala140Gly) rs1435160117
NM_001100.3(ACTA1):c.425T>C (p.Leu142Pro) rs1553255482
NM_001100.3(ACTA1):c.449C>G (p.Thr150Ser) rs1553255479
NM_001100.3(ACTA1):c.453C>A (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.453C>T (p.Thr151=) rs76030344
NM_001100.3(ACTA1):c.461T>C (p.Val154Ala) rs1553255446
NM_001100.3(ACTA1):c.461_478del (p.Val154_Asp159del) rs1553255444
NM_001100.3(ACTA1):c.553C>T (p.Arg185Cys) rs1064794287
NM_001100.3(ACTA1):c.557A>G (p.Asp186Gly)
NM_001100.3(ACTA1):c.598T>A (p.Tyr200Asn) rs1553255432
NM_001100.3(ACTA1):c.606C>A (p.Phe202Leu) rs1255258064
NM_001100.3(ACTA1):c.616+1G>A rs111812550
NM_001100.3(ACTA1):c.616G>A (p.Ala206Thr) rs1057521119
NM_001100.3(ACTA1):c.617-5C>T rs199804338
NM_001100.3(ACTA1):c.617C>T (p.Ala206Val)
NM_001100.3(ACTA1):c.645G>A (p.Lys215=) rs1553255420
NM_001100.3(ACTA1):c.659A>T (p.Tyr220Phe)
NM_001100.3(ACTA1):c.660C>A (p.Tyr220Ter) rs201823652
NM_001100.3(ACTA1):c.676G>C (p.Glu226Gln) rs1057521118
NM_001100.3(ACTA1):c.682G>C (p.Glu228Gln) rs1558081664
NM_001100.3(ACTA1):c.685A>T (p.Met229Leu)
NM_001100.3(ACTA1):c.712del (p.Leu238fs)
NM_001100.3(ACTA1):c.713T>C (p.Leu238Pro)
NM_001100.3(ACTA1):c.766C>T (p.Arg256Cys) rs1558081624
NM_001100.3(ACTA1):c.782A>T (p.Glu261Val) rs121909523
NM_001100.3(ACTA1):c.796C>T (p.Pro266Ser) rs1553255405
NM_001100.3(ACTA1):c.803T>C (p.Phe268Ser) rs1558081605
NM_001100.3(ACTA1):c.808+6C>A rs200342114
NM_001100.3(ACTA1):c.808G>C (p.Gly270Arg) rs121909525
NM_001100.3(ACTA1):c.80A>G (p.Asp27Gly) rs1553255534
NM_001100.3(ACTA1):c.811A>G (p.Met271Val) rs1553255361
NM_001100.3(ACTA1):c.812T>G (p.Met271Arg) rs1553255360
NM_001100.3(ACTA1):c.821C>A (p.Ala274Glu)
NM_001100.3(ACTA1):c.84_85insT (p.Pro29fs) rs753923758
NM_001100.3(ACTA1):c.897C>A (p.Asn299Lys)
NM_001100.3(ACTA1):c.898G>T (p.Val300Phe) rs1553255349
NM_001100.3(ACTA1):c.963_968del (p.Leu322_Ala323del) rs1553255336
NM_001100.3(ACTA1):c.965T>A (p.Leu322Gln)
NM_001100.3(ACTA1):c.981G>C (p.Met327Ile) rs1553255334
NM_001100.3(ACTA1):c.990+1G>T rs372686280
NM_001100.3(ACTA1):c.996C>A (p.Ile332=) rs74897770

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