ClinVar Miner

List of variants in gene NEB reported as pathogenic for Nemaline myopathy 2

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP
GRCh37/hg19 2q23.3(chr2:152502644-152502748)
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_001164508.2(NEB):c.10872+1G>A
NM_001164508.2(NEB):c.20157+2T>A
NM_001164508.2(NEB):c.7956+1G>A
NM_001271208.1(NEB):c.7523_7526del rs878854368
NM_001271208.2(NEB):c.1006_1018del (p.Asn336fs)
NM_001271208.2(NEB):c.10493del (p.Gly3498fs) rs1574014358
NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001271208.2(NEB):c.10872+1G>T rs1336053002
NM_001271208.2(NEB):c.10899G>A (p.Trp3633Ter) rs780343350
NM_001271208.2(NEB):c.11010dup (p.Phe3671fs)
NM_001271208.2(NEB):c.11054dup (p.Asn3685fs) rs1560499498
NM_001271208.2(NEB):c.11164C>T (p.Arg3722Ter) rs928945364
NM_001271208.2(NEB):c.1152+1G>A rs398124167
NM_001271208.2(NEB):c.1152+1G>C
NM_001271208.2(NEB):c.11533G>T (p.Glu3845Ter)
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) rs1319778592
NM_001271208.2(NEB):c.12182del (p.Pro4061fs)
NM_001271208.2(NEB):c.12433G>T (p.Glu4145Ter)
NM_001271208.2(NEB):c.12457G>T (p.Glu4153Ter)
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.12733G>T (p.Glu4245Ter)
NM_001271208.2(NEB):c.12738del (p.Ile4246fs)
NM_001271208.2(NEB):c.12991C>T (p.Gln4331Ter)
NM_001271208.2(NEB):c.13147C>T (p.Gln4383Ter) rs1212374733
NM_001271208.2(NEB):c.1333del (p.His445fs) rs1576704575
NM_001271208.2(NEB):c.13420C>T (p.Arg4474Ter)
NM_001271208.2(NEB):c.13441C>T (p.Gln4481Ter)
NM_001271208.2(NEB):c.13525del (p.Cys4509fs)
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) rs1553862114
NM_001271208.2(NEB):c.13780C>T (p.Gln4594Ter)
NM_001271208.2(NEB):c.13788+1G>A rs1553862061
NM_001271208.2(NEB):c.13788+1G>C
NM_001271208.2(NEB):c.1529_1533del (p.Val510fs)
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 rs750585238
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001271208.2(NEB):c.1676del (p.Asn559fs) rs1576600442
NM_001271208.2(NEB):c.17118+1G>A
NM_001271208.2(NEB):c.17196_17200del (p.Ile5732fs) rs1578011278
NM_001271208.2(NEB):c.17415C>A (p.Tyr5805Ter) rs555516831
NM_001271208.2(NEB):c.17653_17654del (p.Trp5885fs)
NM_001271208.2(NEB):c.17695dup (p.Leu5899fs)
NM_001271208.2(NEB):c.17734del (p.Gln5912fs)
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) rs1577890764
NM_001271208.2(NEB):c.18124C>T (p.Gln6042Ter) rs1577886635
NM_001271208.2(NEB):c.18211del (p.Asp6071fs)
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.18865C>T (p.Arg6289Ter) rs539819851
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) rs1577244250
NM_001271208.2(NEB):c.19800C>G (p.Tyr6600Ter) rs552379239
NM_001271208.2(NEB):c.19851T>A (p.Tyr6617Ter)
NM_001271208.2(NEB):c.19929C>G (p.Tyr6643Ter)
NM_001271208.2(NEB):c.19944G>A (p.Ser6648=) rs201553266
NM_001271208.2(NEB):c.20281_20282dup (p.Phe6762fs)
NM_001271208.2(NEB):c.20467-2A>C rs1392500142
NM_001271208.2(NEB):c.20503C>T (p.Arg6835Ter) rs370098540
NM_001271208.2(NEB):c.20633del (p.Asp6878fs)
NM_001271208.2(NEB):c.2065dup (p.Tyr689fs) rs1576517390
NM_001271208.2(NEB):c.20808T>A (p.Tyr6936Ter) rs753417634
NM_001271208.2(NEB):c.20845dup (p.Thr6949fs) rs1553695209
NM_001271208.2(NEB):c.21052del (p.Asp7018fs) rs1576695735
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.2200C>T (p.Gln734Ter)
NM_001271208.2(NEB):c.2211+5G>A rs797045736
NM_001271208.2(NEB):c.2647C>T (p.Arg883Ter)
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.3264_3265del (p.Tyr1088_Lys1089delinsTer)
NM_001271208.2(NEB):c.3270del (p.Asp1091fs)
NM_001271208.2(NEB):c.3384del (p.Asp1129fs)
NM_001271208.2(NEB):c.3473_3488del (p.Asn1158fs)
NM_001271208.2(NEB):c.3567+1G>A rs587780399
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.4417C>T (p.Arg1473Ter)
NM_001271208.2(NEB):c.4535_4536del (p.Leu1512fs)
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) rs1340063197
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.580C>T (p.Gln194Ter)
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) rs1575358650
NM_001271208.2(NEB):c.633G>A (p.Trp211Ter)
NM_001271208.2(NEB):c.6341_6342AC[3] (p.Ala2117fs) rs1575295628
NM_001271208.2(NEB):c.6385C>T (p.Gln2129Ter) rs80344795
NM_001271208.2(NEB):c.6542G>A (p.Trp2181Ter)
NM_001271208.2(NEB):c.6710del (p.Tyr2237fs)
NM_001271208.2(NEB):c.6734dup (p.Thr2246fs)
NM_001271208.2(NEB):c.6753del (p.Met2251fs)
NM_001271208.2(NEB):c.6824del (p.Gly2275fs)
NM_001271208.2(NEB):c.6993del (p.Val2332fs)
NM_001271208.2(NEB):c.724del (p.Tyr242fs) rs1577548638
NM_001271208.2(NEB):c.7253G>A (p.Trp2418Ter) rs1575122070
NM_001271208.2(NEB):c.736del (p.Leu246fs)
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.7997del (p.Gly2666fs)
NM_001271208.2(NEB):c.8031_8041del (p.Lys2677fs) rs398124172
NM_001271208.2(NEB):c.8425del (p.Arg2809fs) rs1574820458
NM_001271208.2(NEB):c.8458_8459del (p.Ser2820fs) rs776982138
NM_001271208.2(NEB):c.9217_9218del (p.Arg3073fs) rs1574526903
NM_001271208.2(NEB):c.937C>T (p.Gln313Ter) rs1577253760
NM_001271208.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001271208.2(NEB):c.9619-2A>G rs375145370
NM_001271208.2(NEB):c.9726_9727insAT (p.Leu3243fs) rs1553934562
NM_001271208.2(NEB):c.9775C>T (p.Arg3259Ter)
NM_001271208.2(NEB):c.9954T>G (p.Tyr3318Ter)

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