ClinVar Miner

List of variants reported as pathogenic for childhood-onset nemaline myopathy by Invitae

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 107
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HGVS dbSNP
NC_000002.11:g.(?_152502272)_(152504773_?)del
NC_000002.11:g.(?_152502624)_(152502768_?)del
NC_000002.11:g.(?_152502634)_(152502758_?)del
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)
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)
NM_001271208.2(NEB):c.10493del (p.Gly3498fs)
NM_001271208.2(NEB):c.10899G>A (p.Trp3633Ter)
NM_001271208.2(NEB):c.11054dup (p.Asn3685fs)
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001271208.2(NEB):c.11627G>A (p.Trp3876Ter) rs776569219
NM_001271208.2(NEB):c.12018+1G>A rs762278237
NM_001271208.2(NEB):c.12160del (p.Trp4054fs)
NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001271208.2(NEB):c.1333del (p.His445fs)
NM_001271208.2(NEB):c.13704T>A (p.Tyr4568Ter) rs1553862274
NM_001271208.2(NEB):c.13756C>T (p.Gln4586Ter) rs1560283028
NM_001271208.2(NEB):c.13773C>A (p.Tyr4591Ter)
NM_001271208.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001271208.2(NEB):c.1674+1G>A
NM_001271208.2(NEB):c.1676del (p.Asn559fs)
NM_001271208.2(NEB):c.17196_17200del (p.Ile5732fs)
NM_001271208.2(NEB):c.17415C>A (p.Tyr5805Ter)
NM_001271208.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001271208.2(NEB):c.17845-1G>A rs1371849916
NM_001271208.2(NEB):c.17986del (p.Thr5996fs)
NM_001271208.2(NEB):c.18124C>T (p.Gln6042Ter)
NM_001271208.2(NEB):c.19711_19714del (p.Ala6571fs)
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20503C>T (p.Arg6835Ter)
NM_001271208.2(NEB):c.2065dup (p.Tyr689fs)
NM_001271208.2(NEB):c.21052del (p.Asp7018fs)
NM_001271208.2(NEB):c.21609del (p.Asn7204fs) rs934955715
NM_001271208.2(NEB):c.21816_21817dup (p.Asp7273fs) rs1559580467
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter)
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter)
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter)
NM_001271208.2(NEB):c.23953_23956dup (p.Asn7986fs) rs1559296376
NM_001271208.2(NEB):c.24072_24075del (p.Pro8025fs) rs756384471
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24248del (p.Gly8083fs) rs1553556154
NM_001271208.2(NEB):c.24277C>T (p.Gln8093Ter)
NM_001271208.2(NEB):c.24294_24297dup (p.Glu8100fs) rs1553555882
NM_001271208.2(NEB):c.24314_24317dup (p.Leu8106fs) rs781667543
NM_001271208.2(NEB):c.24316_24317dup (p.Leu8106fs) rs1553552384
NM_001271208.2(NEB):c.24434_24437dup (p.Pro8147fs)
NM_001271208.2(NEB):c.24444_24447del (p.Pro8149fs) rs934111355
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24500_24503dup (p.Leu8168fs) rs762133567
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24632_24633del (p.Pro8211fs) rs555445835
NM_001271208.2(NEB):c.24650_24651AG[2] (p.Arg8218fs) rs755863625
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs)
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.25319del (p.Gly8440fs) rs1553520266
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.2784del (p.Asp929fs) rs786204430
NM_001271208.2(NEB):c.2920C>T (p.Arg974Ter) rs1553548666
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001271208.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001271208.2(NEB):c.496_499del (p.Gln166fs)
NM_001271208.2(NEB):c.5364G>A (p.Trp1788Ter)
NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019
NM_001271208.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001271208.2(NEB):c.6108_6111AAAG[1] (p.Lys2038fs)
NM_001271208.2(NEB):c.6341_6342AC[3] (p.Ala2117fs)
NM_001271208.2(NEB):c.724del (p.Tyr242fs)
NM_001271208.2(NEB):c.7253G>A (p.Trp2418Ter)
NM_001271208.2(NEB):c.8425del (p.Arg2809fs)
NM_001271208.2(NEB):c.8458_8459del (p.Ser2820fs)
NM_001271208.2(NEB):c.9217_9218del (p.Arg3073fs)
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_006063.3(KLHL41):c.1296del (p.Lys432fs)
NM_006063.3(KLHL41):c.168_175del (p.Pro56_Tyr57insTer) rs1247404453
NM_006063.3(KLHL41):c.215dup (p.Glu73fs) rs775513051
NM_006063.3(KLHL41):c.930_939del (p.Asn310fs)
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_152263.4(TPM3):c.503G>A (p.Arg168His) rs121964852
NM_152263.4(TPM3):c.758C>A (p.Thr253Lys) rs1553248515

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