ClinVar Miner

List of variants in gene ENG studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP
NC_000009.12:g.127817320C>T
NC_000009.12:g.127818114A>C
NC_000009.12:g.127843069C>A
NM_000118.3(ENG):c.-127C>T rs1060501408
NM_000118.3(ENG):c.-188G>A rs961480381
NM_000118.3(ENG):c.-79C>T rs1564466502
NM_000118.3(ENG):c.1019C>T (p.Pro340Leu) rs772135786
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
NM_000118.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs) rs1064792934
NM_000118.3(ENG):c.1060C>T (p.Leu354=) rs36092484
NM_000118.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_000118.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_000118.3(ENG):c.1089T>G (p.Cys363Trp) rs777177134
NM_000118.3(ENG):c.1117_1120AAGA[1] (p.Lys374fs) rs1064793734
NM_000118.3(ENG):c.120C>T (p.Gly40=) rs41522944
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.14C>T (p.Thr5Met) rs35400405
NM_000118.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_000118.3(ENG):c.158G>A (p.Cys53Tyr) rs187643086
NM_000118.3(ENG):c.1794T>C (p.Gly598=) rs41358947
NM_000118.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_000118.3(ENG):c.207G>A (p.Leu69=) rs11545664
NM_000118.3(ENG):c.219+259dup
NM_000118.3(ENG):c.219+5G>C rs1554812252
NM_000118.3(ENG):c.225G>A (p.Pro75=) rs116146060
NM_000118.3(ENG):c.234G>A (p.Leu78=) rs115675061
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.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.360+1G>A rs886039505
NM_000118.3(ENG):c.360+5G>C rs1060501417
NM_000118.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_000118.3(ENG):c.41_51del (p.Leu14fs) rs1564466393
NM_000118.3(ENG):c.446G>A (p.Trp149Ter) rs863223534
NM_000118.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_000118.3(ENG):c.469del (p.Thr157fs) rs1554810494
NM_000118.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_000118.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_000118.3(ENG):c.526C>T (p.Gln176Ter) rs1131691674
NM_000118.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_000118.3(ENG):c.572G>A (p.Gly191Asp) rs41322046
NM_000118.3(ENG):c.574_580del (p.Arg192fs) rs1564456347
NM_000118.3(ENG):c.583del (p.Glu195fs) rs1554810413
NM_000118.3(ENG):c.593_594CG[3] (p.Thr200fs) rs1554810405
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.67+1G>A rs1554813783
NM_000118.3(ENG):c.67+5G>A rs763111216
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-215T>C
NM_000118.3(ENG):c.686C>A (p.Ala229Asp) rs971190119
NM_000118.3(ENG):c.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.689+2T>C rs863223535
NM_000118.3(ENG):c.690-2A>T rs1564455970
NM_000118.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_000118.3(ENG):c.712del (p.Val238fs) rs886041548
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.726C>A (p.Cys242Ter) rs545465750
NM_000118.3(ENG):c.732dup (p.Gly245fs) rs1554810254
NM_000118.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_000118.3(ENG):c.742_743insT (p.Asp248fs) rs1213847963
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.808C>T (p.Gln270Ter) rs1554810215
NM_000118.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_000118.3(ENG):c.880_881del (p.Asp294fs) rs886042916
NM_000118.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_000118.3(ENG):c.896_991+90del rs1554810125
NM_000118.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_000118.3(ENG):c.904G>T (p.Glu302Ter) rs1060501419
NM_000118.3(ENG):c.97C>T (p.Gln33Ter) rs1564462827
NM_000118.3(ENG):c.98A>C (p.Gln33Pro) rs863223531
NM_000118.3(ENG):c.98_101del (p.Gln33fs) rs1554812283
NM_001114753.2(ENG):c.1970T>C (p.Met657Thr) rs768873662

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.