ClinVar Miner

List of variants in gene ENG reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 68
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HGVS dbSNP
NC_000009.11:g.(?_130586563)_(130616761_?)del
NC_000009.11:g.(?_130591960)_(130592112_?)del
NC_000009.11:g.(?_130605367)_(130605530_?)del
NC_000009.11:g.(?_130605373)_(130605524_?)del
NC_000009.11:g.(?_130616548)_(130616761_?)del
NC_000009.11:g.(?_130616558)_(130616761_?)del
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.1024C>T (p.Gln342Ter) rs774429348
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1111dup (p.Val371fs) rs1554810041
NM_000118.3(ENG):c.1134G>A (p.Ala378=) rs1329127701
NM_000118.3(ENG):c.119del (p.Gly40fs) rs369596004
NM_000118.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_000118.3(ENG):c.166C>T (p.Gln56Ter)
NM_000118.3(ENG):c.1A>C (p.Met1Leu)
NM_000118.3(ENG):c.219+1G>A rs1554812253
NM_000118.3(ENG):c.224del (p.Pro75fs) rs1554810932
NM_000118.3(ENG):c.229C>T (p.Gln77Ter)
NM_000118.3(ENG):c.229del (p.Gln77fs) rs1554810928
NM_000118.3(ENG):c.244del (p.Leu82fs) rs1554810921
NM_000118.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_000118.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_000118.3(ENG):c.280G>T (p.Glu94Ter)
NM_000118.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.392del (p.Pro131fs) rs1554810510
NM_000118.3(ENG):c.397del (p.Val133fs)
NM_000118.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_000118.3(ENG):c.488_491del (p.Asn163fs)
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.523G>T (p.Ala175Ser)
NM_000118.3(ENG):c.524-2A>G rs1060501414
NM_000118.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_000118.3(ENG):c.572del (p.Gly191fs) rs1564456374
NM_000118.3(ENG):c.587G>A (p.Trp196Ter)
NM_000118.3(ENG):c.593_594CG[3] (p.Thr200fs) rs1554810405
NM_000118.3(ENG):c.621C>A (p.Cys207Ter) rs1440769928
NM_000118.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_000118.3(ENG):c.67del (p.Ser23fs) rs878853658
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.683C>A (p.Ser228Ter) rs1452543778
NM_000118.3(ENG):c.689+1G>A
NM_000118.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_000118.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_000118.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_000118.3(ENG):c.743del (p.Asp248fs)
NM_000118.3(ENG):c.753_781del (p.Ile252fs)
NM_000118.3(ENG):c.771del (p.Tyr258fs)
NM_000118.3(ENG):c.776del (p.Val259fs)
NM_000118.3(ENG):c.782G>A (p.Trp261Ter) rs1060501420
NM_000118.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_000118.3(ENG):c.815G>A (p.Trp272Ter)
NM_000118.3(ENG):c.817-1G>C rs1564455715
NM_000118.3(ENG):c.831C>A (p.Tyr277Ter)
NM_000118.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_000118.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_000118.3(ENG):c.904dup (p.Glu302fs) rs1554810177
NM_000118.3(ENG):c.911_918del (p.Arg304fs) rs1564455604
NM_000118.3(ENG):c.983_984delinsAG (p.Ser328Ter)
NM_000118.3(ENG):c.991+2T>C rs1564455554
NM_000118.3(ENG):c.991+2T>G
NM_000118.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_000118.3(ENG):c.992-2A>G
NM_001114753.2(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_001114753.2(ENG):c.1117_1120AAGA[1] (p.Lys374fs) rs1064793734
NM_001114753.2(ENG):c.1122_1123AG[1] (p.Glu375fs) rs1554810037
NM_001114753.2(ENG):c.562dup (p.Gln188fs)
NM_001114753.2(ENG):c.636_639GGCC[1] (p.Gly214fs) rs864622666

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