ClinVar Miner

List of variants in gene ENG reported as pathogenic by GeneDx

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Gene type:
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Total variants: 27
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HGVS dbSNP
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.1117_1120AAGA[1] (p.Lys374fs) rs1064793734
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.2T>G (p.Met1Arg) rs267606783
NM_000118.3(ENG):c.360+1G>A rs886039505
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.526C>T (p.Gln176Ter) rs1131691674
NM_000118.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
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.689+2T>C rs863223535
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.98_101del (p.Gln33fs) rs1554812283

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