ClinVar Miner

List of variants in gene ENG reported by GeneDx

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Gene type:
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Total variants: 57
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HGVS dbSNP
NM_000118.3(ENG):c.1014C>T (p.Pro338=) rs1057522787
NM_000118.3(ENG):c.1029C>T (p.Thr343=) rs3739817
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.1096G>C (p.Asp366His) rs1800956
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.1762G>A (p.Val588Ile) rs201768056
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+25G>T rs7847860
NM_000118.3(ENG):c.219+5G>C rs1554812252
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.291G>C (p.Leu97=) rs376641299
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.444G>T (p.Glu148Asp) rs863223530
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.507C>T (p.Leu169=) rs750014839
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.524-12G>A rs142841129
NM_000118.3(ENG):c.524-15C>T rs201463582
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.583del (p.Glu195fs) rs1554810413
NM_000118.3(ENG):c.593_594CG[3] (p.Thr200fs) rs1554810405
NM_000118.3(ENG):c.67+1G>A rs1554813783
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000118.3(ENG):c.68-215T>C
NM_000118.3(ENG):c.689+2T>C rs863223535
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.816G>A (p.Trp272Ter) rs886041326
NM_000118.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_000118.3(ENG):c.896_991+90del rs1554810125
NM_000118.3(ENG):c.98A>C (p.Gln33Pro) rs863223531
NM_000118.3(ENG):c.98_101del (p.Gln33fs) rs1554812283
NM_000118.3(ENG):c.991+21_991+26dup rs148063362
NM_001114753.2(ENG):c.1961C>G (p.Thr654Ser) rs1050077

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