ClinVar Miner

List of variants in gene ENG reported as uncertain significance

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Total variants: 107
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HGVS dbSNP
NM_000118.3(ENG):c.*368C>T rs539680928
NM_000118.3(ENG):c.*385C>A rs886063475
NM_000118.3(ENG):c.*487C>A rs886063474
NM_000118.3(ENG):c.*501G>A rs764451017
NM_000118.3(ENG):c.*508A>C rs138178682
NM_000118.3(ENG):c.*726C>T rs190129922
NM_000118.3(ENG):c.*758A>G rs72616667
NM_000118.3(ENG):c.-158C>T rs41470844
NM_000118.3(ENG):c.-186G>A rs569618819
NM_000118.3(ENG):c.-246T>C rs886063478
NM_000118.3(ENG):c.-289A>C rs538284289
NM_000118.3(ENG):c.-289A>T rs538284289
NM_000118.3(ENG):c.-338G>A rs534779092
NM_000118.3(ENG):c.-339C>T rs554349374
NM_000118.3(ENG):c.-343C>T rs543301425
NM_000118.3(ENG):c.-395C>A rs886063479
NM_000118.3(ENG):c.-63C>T rs886063476
NM_000118.3(ENG):c.-70delC rs886063477
NM_000118.3(ENG):c.-79C>T rs1564466502
NM_000118.3(ENG):c.1015G>A (p.Ala339Thr)
NM_000118.3(ENG):c.1036C>T (p.Pro346Ser) rs1554810062
NM_000118.3(ENG):c.1055C>T (p.Pro352Leu)
NM_000118.3(ENG):c.1067T>A (p.Met356Lys) rs138190783
NM_000118.3(ENG):c.1089T>G (p.Cys363Trp) rs777177134
NM_000118.3(ENG):c.1110G>A (p.Leu370=)
NM_000118.3(ENG):c.112G>A (p.Glu38Lys)
NM_000118.3(ENG):c.1133C>T (p.Ala378Val) rs143054595
NM_000118.3(ENG):c.121G>A (p.Glu41Lys) rs199675436
NM_000118.3(ENG):c.130T>G (p.Tyr44Asp) rs1554812271
NM_000118.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_000118.3(ENG):c.158G>A (p.Cys53Tyr) rs187643086
NM_000118.3(ENG):c.158G>C (p.Cys53Ser) rs187643086
NM_000118.3(ENG):c.1762G>A (p.Val588Ile) rs201768056
NM_000118.3(ENG):c.1780G>A (p.Gly594Ser) rs1060501409
NM_000118.3(ENG):c.1806C>T (p.Ile602=) rs373002544
NM_000118.3(ENG):c.1844C>G (p.Ser615Trp) rs148002300
NM_000118.3(ENG):c.185T>A (p.Leu62His) rs1060501424
NM_000118.3(ENG):c.1873C>G (p.Gln625Glu)
NM_000118.3(ENG):c.217A>G (p.Thr73Ala) rs1472137141
NM_000118.3(ENG):c.219+3G>A rs1419279746
NM_000118.3(ENG):c.220-6C>A rs756342212
NM_000118.3(ENG):c.310A>G (p.Ser104Gly) rs757343854
NM_000118.3(ENG):c.314T>A (p.Val105Asp)
NM_000118.3(ENG):c.321G>T (p.Leu107=) rs767907933
NM_000118.3(ENG):c.321_322delinsTT (p.His108Tyr) rs1060501425
NM_000118.3(ENG):c.322C>T (p.His108Tyr) rs756897517
NM_000118.3(ENG):c.350A>C (p.His117Pro)
NM_000118.3(ENG):c.360C>T (p.Tyr120=) rs121918402
NM_000118.3(ENG):c.361-12_361-11delAT rs781079790
NM_000118.3(ENG):c.374T>C (p.Val125Ala) rs750115837
NM_000118.3(ENG):c.392C>T (p.Pro131Leu) rs139398993
NM_000118.3(ENG):c.396_397delinsAA (p.Val133Ile) rs1554810507
NM_000118.3(ENG):c.498G>C (p.Gln166His)
NM_000118.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_000118.3(ENG):c.534_536del (p.Leu179del)
NM_000118.3(ENG):c.539C>T (p.Ser180Phe) rs375025857
NM_000118.3(ENG):c.565G>T (p.Asp189Tyr) rs147792018
NM_000118.3(ENG):c.575G>A (p.Arg192His)
NM_000118.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_000118.3(ENG):c.583G>C (p.Glu195Gln) rs1255912441
NM_000118.3(ENG):c.589C>T (p.Arg197Trp) rs780987528
NM_000118.3(ENG):c.593C>T (p.Pro198Leu)
NM_000118.3(ENG):c.595C>T (p.Arg199Cys) rs752195587
NM_000118.3(ENG):c.596G>A (p.Arg199His) rs548424658
NM_000118.3(ENG):c.614G>A (p.Arg205Gln)
NM_000118.3(ENG):c.617G>C (p.Gly206Ala) rs201393380
NM_000118.3(ENG):c.633C>T (p.Gly211=)
NM_000118.3(ENG):c.634G>A (p.Val212Met) rs370652082
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.659T>C (p.Ile220Thr)
NM_000118.3(ENG):c.67+5G>A rs763111216
NM_000118.3(ENG):c.673C>G (p.Pro225Ala) rs1554810373
NM_000118.3(ENG):c.675G>A (p.Pro225=) rs757608428
NM_000118.3(ENG):c.68-4A>G rs1564462843
NM_000118.3(ENG):c.680A>G (p.His227Arg)
NM_000118.3(ENG):c.687C>T (p.Ala229=) rs376919650
NM_000118.3(ENG):c.694C>T (p.Arg232Trp)
NM_000118.3(ENG):c.698C>T (p.Thr233Met) rs139767471
NM_000118.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_000118.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_000118.3(ENG):c.722G>A (p.Ser241Asn) rs1060501411
NM_000118.3(ENG):c.727G>A (p.Ala243Thr) rs761827492
NM_000118.3(ENG):c.732C>T (p.Pro244=) rs112262663
NM_000118.3(ENG):c.733G>A (p.Gly245Arg)
NM_000118.3(ENG):c.742G>A (p.Asp248Asn)
NM_000118.3(ENG):c.742_743insT (p.Asp248fs) rs1213847963
NM_000118.3(ENG):c.752T>C (p.Leu251Pro) rs1554810243
NM_000118.3(ENG):c.754A>T (p.Ile252Phe) rs377377549
NM_000118.3(ENG):c.782G>T (p.Trp261Leu) rs1060501420
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431
NM_000118.3(ENG):c.799_804del (p.His267_Asn268del)
NM_000118.3(ENG):c.7C>G (p.Arg3Gly) rs139334561
NM_000118.3(ENG):c.7C>T (p.Arg3Cys) rs139334561
NM_000118.3(ENG):c.805A>G (p.Met269Val) rs1323617205
NM_000118.3(ENG):c.806T>C (p.Met269Thr)
NM_000118.3(ENG):c.818C>T (p.Thr273Ile) rs727503038
NM_000118.3(ENG):c.839A>G (p.Lys280Arg)
NM_000118.3(ENG):c.863G>A (p.Arg288His) rs770328302
NM_000118.3(ENG):c.884C>T (p.Thr295Ile)
NM_000118.3(ENG):c.88T>A (p.Cys30Ser) rs1564462834
NM_000118.3(ENG):c.900G>A (p.Leu300=) rs140155568
NM_000118.3(ENG):c.911G>A (p.Arg304Gln) rs753429934
NM_000118.3(ENG):c.98A>C (p.Gln33Pro) rs863223531
NM_000118.3(ENG):c.990C>T (p.Cys330=)
NM_001114753.2(ENG):c.1852+52G>C rs371104611
NM_001114753.2(ENG):c.1961C>G (p.Thr654Ser) rs1050077
NM_001114753.2(ENG):c.1970T>C (p.Met657Thr) rs768873662

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