ClinVar Miner

List of variants in gene combination NEB, RIF1 reported as likely pathogenic for Nemaline myopathy 2

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Total variants: 84
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HGVS dbSNP
NM_001271208.2(NEB):c.21735+1G>A rs1446706909
NM_001271208.2(NEB):c.21841-13_21848del rs767772838
NM_001271208.2(NEB):c.21841-2A>G rs1389892619
NM_001271208.2(NEB):c.22192C>T (p.Gln7398Ter) rs1553646540
NM_001271208.2(NEB):c.22243del (p.Glu7415fs) rs1235589246
NM_001271208.2(NEB):c.22267-5_22267-2del rs1553644243
NM_001271208.2(NEB):c.22378-1G>A rs1553642332
NM_001271208.2(NEB):c.22584+1del rs1488066635
NM_001271208.2(NEB):c.22594C>T (p.Arg7532Ter) rs760935667
NM_001271208.2(NEB):c.22695+2T>C rs200449517
NM_001271208.2(NEB):c.22696-1G>C rs757157808
NM_001271208.2(NEB):c.22801-1G>A rs745511810
NM_001271208.2(NEB):c.22853C>G (p.Pro7618Arg)
NM_001271208.2(NEB):c.22905+1G>A rs1302373559
NM_001271208.2(NEB):c.22905+2T>G rs1553627466
NM_001271208.2(NEB):c.23010+2T>C rs1553623367
NM_001271208.2(NEB):c.23232+2T>C rs112610938
NM_001271208.2(NEB):c.23346+2T>A rs1553615846
NM_001271208.2(NEB):c.23483del (p.Met7828fs) rs1553603690
NM_001271208.2(NEB):c.23520dup (p.Gln7841fs) rs1553603438
NM_001271208.2(NEB):c.23522_23523AG[2] (p.Arg7842fs) rs1553603400
NM_001271208.2(NEB):c.23556+1G>C rs1011425121
NM_001271208.2(NEB):c.23556+1G>T rs1011425121
NM_001271208.2(NEB):c.23847+2T>C rs545937015
NM_001271208.2(NEB):c.23848-1G>C rs797045098
NM_001271208.2(NEB):c.23939C>A (p.Ser7980Ter) rs755970391
NM_001271208.2(NEB):c.23940+1G>A rs781120931
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.24127-1G>A rs1553561697
NM_001271208.2(NEB):c.24127-1G>C rs1553561697
NM_001271208.2(NEB):c.24127-1_24134del rs1423137705
NM_001271208.2(NEB):c.24128_24131dup (p.Leu8044fs) rs1553561665
NM_001271208.2(NEB):c.24129_24133dup (p.Tyr8045fs) rs772009599
NM_001271208.2(NEB):c.24144del (p.Asn8048fs) rs1553561525
NM_001271208.2(NEB):c.24201_24204dup (p.Glu8069fs) rs1553561211
NM_001271208.2(NEB):c.24219+1G>A rs755239192
NM_001271208.2(NEB):c.24232_24235dup (p.Asn8079fs) rs1553556275
NM_001271208.2(NEB):c.24278_24279AG[2] (p.Arg8094fs) rs1266535163
NM_001271208.2(NEB):c.24312+2T>C rs1553555768
NM_001271208.2(NEB):c.24313_24317dup (p.Tyr8107fs) rs1553552413
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.24317T>A (p.Leu8106Ter) rs756726488
NM_001271208.2(NEB):c.24325G>T (p.Glu8109Ter) rs1218073575
NM_001271208.2(NEB):c.24380_24383dup (p.His8128fs) rs1553551748
NM_001271208.2(NEB):c.24382_24383CA[4] (p.Asn8129fs) rs1553551650
NM_001271208.2(NEB):c.24405+1G>A rs1366853918
NM_001271208.2(NEB):c.24406_24410dup (p.Tyr8138fs) rs1553548771
NM_001271208.2(NEB):c.24407_24410dup (p.Leu8137fs) rs1344099907
NM_001271208.2(NEB):c.24410T>A (p.Leu8137Ter) rs1553548752
NM_001271208.2(NEB):c.24414C>A (p.Tyr8138Ter) rs1332061304
NM_001271208.2(NEB):c.24458_24461dup (p.Met8154fs) rs1257495033
NM_001271208.2(NEB):c.24464_24465AG[2] (p.Arg8156fs) rs752582527
NM_001271208.2(NEB):c.24473_24476dup (p.His8159fs) rs1553548207
NM_001271208.2(NEB):c.24482_24488del (p.Gln8161fs) rs1553548018
NM_001271208.2(NEB):c.24498+1G>A rs775631800
NM_001271208.2(NEB):c.24499-1G>A rs1421095081
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001271208.2(NEB):c.24582_24585dup (p.Ser8196delinsTyrTer) rs797044606
NM_001271208.2(NEB):c.24659_24660dup (p.Arg8221fs) rs1553537512
NM_001271208.2(NEB):c.24684G>A (p.Ser8228=) rs202048855
NM_001271208.2(NEB):c.24685-1G>C
NM_001271208.2(NEB):c.24685-2A>G rs113290650
NM_001271208.2(NEB):c.24693C>G (p.Tyr8231Ter) rs754272530
NM_001271208.2(NEB):c.24742G>T (p.Glu8248Ter) rs1553536267
NM_001271208.2(NEB):c.24744_24745del (p.Arg8249fs) rs1357811155
NM_001271208.2(NEB):c.24770_24771del (p.Asn8256_Phe8257insTer) rs794727136
NM_001271208.2(NEB):c.24771del (p.Phe8257fs) rs794727136
NM_001271208.2(NEB):c.24778-1G>A
NM_001271208.2(NEB):c.24778-2A>C rs112687345
NM_001271208.2(NEB):c.24836_24837AG[2] (p.Arg8280fs) rs776059611
NM_001271208.2(NEB):c.24871-9_24872del rs1553530144
NM_001271208.2(NEB):c.25093C>T (p.Arg8365Ter)
NM_001271208.2(NEB):c.25117delinsTA (p.Glu8373Ter) rs1553526619
NM_001271208.2(NEB):c.25162+1G>A rs1191429915
NM_001271208.2(NEB):c.25162+1G>C rs1191429915
NM_001271208.2(NEB):c.25163-2A>C rs866309952
NM_001271208.2(NEB):c.25256-1G>T rs1553520609
NM_001271208.2(NEB):c.25402+1G>A rs113525641
NM_001271208.2(NEB):c.25402+2del rs1553519860
NM_001271208.2(NEB):c.25441C>T (p.Arg8481Ter) rs200731870
NM_001271208.2(NEB):c.25445C>A (p.Ser8482Ter) rs1553519124
NM_001271208.2(NEB):c.25509+1_25509+2insATGGA rs1357452519
NM_001271208.2(NEB):c.25509+2T>A rs1553518813

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