ClinVar Miner

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

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Gene type:
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Total variants: 104
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HGVS dbSNP
NM_001271208.1(NEB):c.23940+17_23940+21del rs768100915
NM_001271208.2(NEB):c.21418-9C>T rs1576549807
NM_001271208.2(NEB):c.21426T>C (p.Tyr7142=) rs372326115
NM_001271208.2(NEB):c.21476G>A (p.Arg7159His) rs201094791
NM_001271208.2(NEB):c.21522+3A>G rs148950085
NM_001271208.2(NEB):c.21523-9A>G rs1553669362
NM_001271208.2(NEB):c.21524T>C (p.Ile7175Thr) rs200112795
NM_001271208.2(NEB):c.21618A>C (p.Gln7206His) rs542149432
NM_001271208.2(NEB):c.21627T>C (p.Asp7209=) rs185169373
NM_001271208.2(NEB):c.21630C>T (p.Ile7210=) rs369183371
NM_001271208.2(NEB):c.21669C>A (p.Gly7223=) rs775887037
NM_001271208.2(NEB):c.21684C>T (p.His7228=) rs372877088
NM_001271208.2(NEB):c.21736-7C>T rs374513817
NM_001271208.2(NEB):c.21736-8T>C rs1394610862
NM_001271208.2(NEB):c.21778A>T (p.Thr7260Ser) rs187977960
NM_001271208.2(NEB):c.21790G>C (p.Asp7264His) rs201979610
NM_001271208.2(NEB):c.21840T>C (p.Asn7280=) rs568248647
NM_001271208.2(NEB):c.21870C>T (p.Asn7290=) rs180903156
NM_001271208.2(NEB):c.21966G>A (p.Arg7322=) rs372808358
NM_001271208.2(NEB):c.21967G>C (p.Glu7323Gln) rs768693028
NM_001271208.2(NEB):c.22011C>T (p.Asn7337=) rs757845188
NM_001271208.2(NEB):c.22074C>T (p.Val7358=) rs554809115
NM_001271208.2(NEB):c.22077G>A (p.Lys7359=) rs267598918
NM_001271208.2(NEB):c.22081A>C (p.Arg7361=) rs780790042
NM_001271208.2(NEB):c.22128G>A (p.Ala7376=) rs533246582
NM_001271208.2(NEB):c.22155+13C>T rs113403461
NM_001271208.2(NEB):c.22209A>T (p.Thr7403=) rs756011050
NM_001271208.2(NEB):c.22213C>G (p.Pro7405Ala) rs200304547
NM_001271208.2(NEB):c.22215A>G (p.Pro7405=) rs539800267
NM_001271208.2(NEB):c.22227C>G (p.Asp7409Glu) rs192402741
NM_001271208.2(NEB):c.22257T>C (p.His7419=) rs771582884
NM_001271208.2(NEB):c.22299A>G (p.Lys7433=) rs1232660353
NM_001271208.2(NEB):c.22377+7T>C rs762551492
NM_001271208.2(NEB):c.22378-10C>T rs781520817
NM_001271208.2(NEB):c.22378-36CT[5] rs751597547
NM_001271208.2(NEB):c.22479+7G>A rs750007608
NM_001271208.2(NEB):c.22533C>T (p.Leu7511=) rs371431256
NM_001271208.2(NEB):c.22653G>A (p.Gln7551=) rs200776925
NM_001271208.2(NEB):c.22734C>T (p.Pro7578=) rs373263895
NM_001271208.2(NEB):c.22743C>T (p.Asp7581=) rs372279388
NM_001271208.2(NEB):c.22752G>A (p.Glu7584=) rs201688876
NM_001271208.2(NEB):c.22801-10T>C rs1212927796
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.22983C>A (p.Ala7661=) rs185574478
NM_001271208.2(NEB):c.22995G>A (p.Gln7665=) rs765598242
NM_001271208.2(NEB):c.23010+7C>T rs1426040506
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23091T>C (p.His7697=) rs149606244
NM_001271208.2(NEB):c.23118C>T (p.Ser7706=) rs370873040
NM_001271208.2(NEB):c.23136A>G (p.Lys7712=) rs968522988
NM_001271208.2(NEB):c.23233-18del rs1553616477
NM_001271208.2(NEB):c.23233-5T>C rs1349957816
NM_001271208.2(NEB):c.23246G>A (p.Arg7749Gln) rs200963111
NM_001271208.2(NEB):c.23346+16C>T rs75221580
NM_001271208.2(NEB):c.23372T>C (p.Met7791Thr) rs201767727
NM_001271208.2(NEB):c.23487G>A (p.Ser7829=) rs770713773
NM_001271208.2(NEB):c.23523G>T (p.Gln7841His) rs765789028
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23619A>G (p.Pro7873=) rs1575473569
NM_001271208.2(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.2(NEB):c.23700C>T (p.Ile7900=) rs370825760
NM_001271208.2(NEB):c.23755-7_23755-6delinsAT rs1575422447
NM_001271208.2(NEB):c.23808A>G (p.Glu7936=) rs779612457
NM_001271208.2(NEB):c.23847+8C>T rs1575419282
NM_001271208.2(NEB):c.23847+9C>T rs762973833
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) rs193224180
NM_001271208.2(NEB):c.23910A>G (p.Arg7970=) rs1481356421
NM_001271208.2(NEB):c.23934T>C (p.Phe7978=) rs1575331983
NM_001271208.2(NEB):c.24032C>T (p.Ser8011Leu) rs202137113
NM_001271208.2(NEB):c.24126+8G>A rs1361035933
NM_001271208.2(NEB):c.24163A>G (p.Ile8055Val) rs144634228
NM_001271208.2(NEB):c.24213T>C (p.Phe8071=) rs748169663
NM_001271208.2(NEB):c.24282A>G (p.Arg8094=) rs1030563077
NM_001271208.2(NEB):c.24312G>A (p.Ser8104=) rs763193315
NM_001271208.2(NEB):c.24313-10T>C rs1061322
NM_001271208.2(NEB):c.24406-7C>T rs755582434
NM_001271208.2(NEB):c.24450C>T (p.Val8150=) rs922674535
NM_001271208.2(NEB):c.24558G>A (p.Glu8186=) rs372540293
NM_001271208.2(NEB):c.24558_24559delinsAA (p.Glu8186_Arg8187=) rs1574938607
NM_001271208.2(NEB):c.24591+10G>A rs755064162
NM_001271208.2(NEB):c.24591+9C>A rs763870394
NM_001271208.2(NEB):c.24624C>T (p.Thr8208=) rs748978197
NM_001271208.2(NEB):c.24675C>T (p.Asn8225=) rs201566336
NM_001271208.2(NEB):c.24720C>T (p.Pro8240=) rs371270146
NM_001271208.2(NEB):c.24750G>A (p.Val8250=) rs769610035
NM_001271208.2(NEB):c.24843T>C (p.Ala8281=) rs1057524338
NM_001271208.2(NEB):c.24862A>G (p.Ile8288Val) rs551649582
NM_001271208.2(NEB):c.24870+8C>T rs374935839
NM_001271208.2(NEB):c.24925T>C (p.Leu8309=) rs372203426
NM_001271208.2(NEB):c.25014T>C (p.Gly8338=) rs754365974
NM_001271208.2(NEB):c.25110A>G (p.Lys8370=) rs996538018
NM_001271208.2(NEB):c.25140C>T (p.Asp8380=) rs201825451
NM_001271208.2(NEB):c.25212A>G (p.Pro8404=) rs763433145
NM_001271208.2(NEB):c.25344A>G (p.Glu8448=) rs576696191
NM_001271208.2(NEB):c.25374C>T (p.Ser8458=) rs776563539
NM_001271208.2(NEB):c.25394T>C (p.Val8465Ala) rs151338614
NM_001271208.2(NEB):c.25403-11_25403-10del rs1553519312
NM_001271208.2(NEB):c.25472C>T (p.Thr8491Met) rs78592085
NM_001271208.2(NEB):c.25473G>A (p.Thr8491=) rs200083849
NM_001271208.2(NEB):c.25510-7C>T rs372113031
NM_001271208.2(NEB):c.25575A>G (p.Gly8525=) rs778502509
NM_001271208.2(NEB):c.25629G>A (p.Val8543=) rs1574250751
NM_001271208.2(NEB):c.25669G>A (p.Val8557Ile) rs117861109

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