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

Minimum submission review status:		Collection method:
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Gene type:		Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 83

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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)	rs1575897069
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.24685-1G>C	rs1574772311
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	rs1574741105
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)	rs767709270
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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