ClinVar Miner

List of variants in gene ENG reported by GeneDx

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NC_000009.12:g.127854979T>G rs4836586 0.99091
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_001114753.3(ENG):c.219+25G>T rs7847860 0.06245
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001114753.3(ENG):c.68-215T>C rs11789912 0.03711
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_001114753.3(ENG):c.991+58A>T rs12002508 0.01910
NM_001114753.3(ENG):c.360+21C>T rs41355248 0.01861
NM_001114753.3(ENG):c.68-256A>G rs41505655 0.01576
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001114753.3(ENG):c.524-30G>A rs41409546 0.01314
NM_001114753.3(ENG):c.67+254A>G rs143016113 0.01181
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001114753.3(ENG):c.523+235C>T rs41377844 0.00329
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001114753.3(ENG):c.524-12G>A rs142841129 0.00116
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001114753.3(ENG):c.291G>C (p.Leu97=) rs376641299 0.00016
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410 0.00008
NM_001114753.3(ENG):c.1098C>T (p.Asp366=) rs201497772 0.00008
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.-126G>A rs940261789 0.00005
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys) rs138190783 0.00003
NM_001114753.3(ENG):c.1134G>A (p.Ala378=) rs1329127701 0.00003
NM_001114753.3(ENG):c.1014C>T (p.Pro338=) rs1057522787 0.00001
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly) rs868730895 0.00001
NM_001114753.3(ENG):c.1955G>A (p.Cys652Tyr) rs774869649 0.00001
NM_001114753.3(ENG):c.524-2A>G rs1060501414 0.00001
NM_001114753.3(ENG):c.68-17G>A rs570198729 0.00001
NM_001114753.3(ENG):c.-127C>T rs1060501408
NM_001114753.3(ENG):c.-2G>A
NM_001114753.3(ENG):c.1018C>T (p.Pro340Ser) rs773463077
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.1084_1085del (p.Lys362fs) rs1554810051
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro) rs372371435
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs) rs1064793734
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_001114753.3(ENG):c.145G>T (p.Val49Phe) rs1252348200
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp) rs1564462765
NM_001114753.3(ENG):c.179_180delinsAA (p.Ala60Glu) rs1060504230
NM_001114753.3(ENG):c.182T>C (p.Ile61Thr)
NM_001114753.3(ENG):c.1852+21_1852+22del
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser) rs1050077
NM_001114753.3(ENG):c.219+259dup rs148797940
NM_001114753.3(ENG):c.219+5G>C rs1554812252
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.2T>G (p.Met1Arg) rs267606783
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.360+5G>C rs1060501417
NM_001114753.3(ENG):c.360+6T>G rs2131894931
NM_001114753.3(ENG):c.361-311GA[4] rs150688809
NM_001114753.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_001114753.3(ENG):c.411G>T (p.Glu137Asp)
NM_001114753.3(ENG):c.444G>T (p.Glu148Asp) rs863223530
NM_001114753.3(ENG):c.446G>A (p.Trp149Ter) rs863223534
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys) rs878853657
NM_001114753.3(ENG):c.469del (p.Thr157fs) rs1554810494
NM_001114753.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter) rs1554810490
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_001114753.3(ENG):c.526C>T (p.Gln176Ter) rs1131691674
NM_001114753.3(ENG):c.562C>T (p.Gln188Ter) rs863223537
NM_001114753.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.583del (p.Glu195fs) rs1554810413
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs) rs1554810405
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro) rs1554810378
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001114753.3(ENG):c.68-1G>A rs878853659
NM_001114753.3(ENG):c.689+2T>C rs863223535
NM_001114753.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_001114753.3(ENG):c.712del (p.Val238fs) rs886041548
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.715G>T (p.Glu239Ter) rs1064794220
NM_001114753.3(ENG):c.715dup (p.Glu239fs) rs1554810257
NM_001114753.3(ENG):c.721_725del (p.Ser241fs) rs1064794219
NM_001114753.3(ENG):c.726C>A (p.Cys242Ter) rs545465750
NM_001114753.3(ENG):c.732dup (p.Gly245fs) rs1554810254
NM_001114753.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_001114753.3(ENG):c.742G>C (p.Asp248His)
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter) rs886041326
NM_001114753.3(ENG):c.88T>C (p.Cys30Arg) rs1564462834
NM_001114753.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_001114753.3(ENG):c.896_991+90del rs1554810125
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro) rs1335718486
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.3(ENG):c.933_968del (p.Ala312_Val323del) rs2131886859
NM_001114753.3(ENG):c.98A>C (p.Gln33Pro) rs863223531
NM_001114753.3(ENG):c.98_101del (p.Gln33fs) rs1554812283
NM_001114753.3(ENG):c.991+21_991+26dup rs148063362
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser) rs1060501410
NM_001114753.3(ENG):c.992-2A>G rs1588580932

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