ClinVar Miner

List of variants reported as pathogenic for Nemaline myopathy 2

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Total variants: 166
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HGVS dbSNP
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
NC_000002.12:g.(?_151485750)_(151957616_?)del
NC_000002.12:g.(?_151614266)_(151697658_?)del
NC_000002.12:g.(?_151645758)_(151648259_?)del
NC_000002.12:g.(?_151646110)_(151646254_?)del
NC_000002.12:g.(?_151646120)_(151646244_?)del
NEB, 2-BP DEL, AG, EX172
NEB, 2-BP DEL, GA, EX181 rs1559154278
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.2(NEB):c.10493del (p.Gly3498fs)
NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter)
NM_001271208.2(NEB):c.10872+1G>T rs1336053002
NM_001271208.2(NEB):c.10899G>A (p.Trp3633Ter) rs780343350
NM_001271208.2(NEB):c.11054dup (p.Asn3685fs)
NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.11585_11586delinsC (p.Tyr3862fs) rs1553896522
NM_001271208.2(NEB):c.11613del (p.Lys3871fs)
NM_001271208.2(NEB):c.1161C>G (p.Tyr387Ter) rs1259297878
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.12182del (p.Pro4061fs)
NM_001271208.2(NEB):c.12555del (p.Ala4184_Trp4185insTer)
NM_001271208.2(NEB):c.12639+1G>A
NM_001271208.2(NEB):c.12648C>G (p.Tyr4216Ter)
NM_001271208.2(NEB):c.12684T>G (p.Tyr4228Ter) rs1553875421
NM_001271208.2(NEB):c.12991C>T (p.Gln4331Ter)
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter)
NM_001271208.2(NEB):c.1333del (p.His445fs)
NM_001271208.2(NEB):c.13420C>T (p.Arg4474Ter)
NM_001271208.2(NEB):c.13537A>T (p.Lys4513Ter)
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.13780C>T (p.Gln4594Ter)
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.1558C>T (p.Gln520Ter)
NM_001271208.2(NEB):c.1623del (p.Asp542fs) rs772366030
NM_001271208.2(NEB):c.1674+1G>A
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.1676del (p.Asn559fs)
NM_001271208.2(NEB):c.17118+1G>A
NM_001271208.2(NEB):c.17196_17200del (p.Ile5732fs)
NM_001271208.2(NEB):c.17415C>A (p.Tyr5805Ter)
NM_001271208.2(NEB):c.17653_17654del (p.Trp5885fs)
NM_001271208.2(NEB):c.17781del (p.Gly5926_Tyr5927insTer)
NM_001271208.2(NEB):c.17828del (p.Asn5943fs) rs1560031341
NM_001271208.2(NEB):c.17845-1G>A rs1371849916
NM_001271208.2(NEB):c.17845-2A>T
NM_001271208.2(NEB):c.17986del (p.Thr5996fs)
NM_001271208.2(NEB):c.18124C>T (p.Gln6042Ter)
NM_001271208.2(NEB):c.18676C>T (p.Gln6226Ter) rs1475648900
NM_001271208.2(NEB):c.18696_18697insSVAelement
NM_001271208.2(NEB):c.18808C>T (p.Arg6270Ter) rs754369875
NM_001271208.2(NEB):c.19097G>T (p.Ser6366Ile) rs191579691
NM_001271208.2(NEB):c.19101+5G>A rs374929094
NM_001271208.2(NEB):c.19711_19714del (p.Ala6571fs)
NM_001271208.2(NEB):c.19800C>G (p.Tyr6600Ter)
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20467-2A>C
NM_001271208.2(NEB):c.20503C>T (p.Arg6835Ter)
NM_001271208.2(NEB):c.2065dup (p.Tyr689fs)
NM_001271208.2(NEB):c.20808T>A (p.Tyr6936Ter)
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001271208.2(NEB):c.21052del (p.Asp7018fs)
NM_001271208.2(NEB):c.21076C>T (p.Arg7026Ter) rs769345284
NM_001271208.2(NEB):c.21194_21195CT[2] (p.Tyr7067fs)
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.22249A>C (p.Thr7417Pro) rs761232641
NM_001271208.2(NEB):c.22275C>G (p.Tyr7425Ter) rs748922882
NM_001271208.2(NEB):c.22361_22362delinsG (p.Ala7454fs) rs1559534672
NM_001271208.2(NEB):c.22417_22420dup (p.Thr7474fs)
NM_001271208.2(NEB):c.22432C>T (p.Arg7478Ter)
NM_001271208.2(NEB):c.22523dup (p.Leu7508fs)
NM_001271208.2(NEB):c.22584+1G>C rs1057515575
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22746del (p.Met7582fs) rs1057515573
NM_001271208.2(NEB):c.22881dup (p.Glu7628fs)
NM_001271208.2(NEB):c.22897C>T (p.Gln7633Ter)
NM_001271208.2(NEB):c.23245C>T (p.Arg7749Ter)
NM_001271208.2(NEB):c.23456dup (p.Tyr7820fs) rs1559360386
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23500_23503dup (p.Leu7835fs) rs1057515574
NM_001271208.2(NEB):c.23731C>T (p.Gln7911Ter)
NM_001271208.2(NEB):c.23952del (p.Glu7985fs)
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.24218C>A (p.Ser8073Ter) rs1458048713
NM_001271208.2(NEB):c.24219+1G>A rs755239192
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.24311C>A (p.Ser8104Ter) rs1037388276
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.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24343dup (p.Thr8115fs)
NM_001271208.2(NEB):c.24372_24375del (p.Arg8125fs) rs747564597
NM_001271208.2(NEB):c.24372_24375dup (p.Val8126fs) rs747564597
NM_001271208.2(NEB):c.24409_24410dup (p.Leu8137fs)
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.24502_24503dup (p.Leu8168fs)
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.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24815_24836del (p.Thr8272fs)
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.25101_25104delinsATTCAA (p.Gln8368fs) rs1553526832
NM_001271208.2(NEB):c.25279G>T (p.Glu8427Ter) rs121913662
NM_001271208.2(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
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.294+2T>C rs773952935
NM_001271208.2(NEB):c.2943+1G>A rs113091511
NM_001271208.2(NEB):c.3255+1G>A rs375628303
NM_001271208.2(NEB):c.3255+1G>T rs375628303
NM_001271208.2(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.3858C>A (p.Cys1286Ter) rs1386238241
NM_001271208.2(NEB):c.3879+1G>A rs746999970
NM_001271208.2(NEB):c.3879+2T>C
NM_001271208.2(NEB):c.3880-2A>G rs1342507012
NM_001271208.2(NEB):c.3987+1G>A rs780022652
NM_001271208.2(NEB):c.3987+1_3987+2delinsTG rs786204576
NM_001271208.2(NEB):c.412C>T (p.Arg138Ter) rs1057517360
NM_001271208.2(NEB):c.4623del (p.Ala1542fs) rs1559039815
NM_001271208.2(NEB):c.4652del (p.Gly1551fs) rs1553502168
NM_001271208.2(NEB):c.493C>T (p.Gln165Ter)
NM_001271208.2(NEB):c.496_499del (p.Gln166fs)
NM_001271208.2(NEB):c.5245_5254del (p.Tyr1749fs)
NM_001271208.2(NEB):c.5364G>A (p.Trp1788Ter) rs201636991
NM_001271208.2(NEB):c.5574C>G (p.Tyr1858Ter) rs781185019
NM_001271208.2(NEB):c.5722del (p.Ser1908fs) rs1553484601
NM_001271208.2(NEB):c.5977dup (p.Tyr1993fs)
NM_001271208.2(NEB):c.6078del (p.Lys2026fs) rs1057516758
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.6385C>T (p.Gln2129Ter) rs80344795
NM_001271208.2(NEB):c.6542G>A (p.Trp2181Ter)
NM_001271208.2(NEB):c.6753del (p.Met2251fs)
NM_001271208.2(NEB):c.6993del (p.Val2332fs)
NM_001271208.2(NEB):c.724del (p.Tyr242fs)
NM_001271208.2(NEB):c.7253G>A (p.Trp2418Ter)
NM_001271208.2(NEB):c.7431+1919_7536+374del
NM_001271208.2(NEB):c.78+1G>A rs778593702
NM_001271208.2(NEB):c.7892G>A (p.Trp2631Ter)
NM_001271208.2(NEB):c.7984del (p.Trp2661_Leu2662insTer)
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.937C>T (p.Gln313Ter)
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_001271208.2(NEB):c.9954T>G (p.Tyr3318Ter)

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