List of variants in gene ENG reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 40

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.-9G>A	rs368423516	0.00040
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_001114753.3(ENG):c.524-2A>G	rs1060501414	0.00001
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs)	rs863223540
NM_001114753.3(ENG):c.142C>T (p.Gln48Ter)	rs1831082433
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.159C>A (p.Cys53Ter)	rs148475405
NM_001114753.3(ENG):c.187G>T (p.Glu63Ter)	rs1588596830
NM_001114753.3(ENG):c.1A>G (p.Met1Val)	rs1060501418
NM_001114753.3(ENG):c.219+2T>C	rs2131918332
NM_001114753.3(ENG):c.219G>A (p.Thr73=)	rs755348996
NM_001114753.3(ENG):c.220-1G>A	rs1554810936
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.360+1G>A	rs886039505
NM_001114753.3(ENG):c.360C>A (p.Tyr120Ter)	rs121918402
NM_001114753.3(ENG):c.361-2A>T
NM_001114753.3(ENG):c.41T>C (p.Leu14Pro)	rs1554813788
NM_001114753.3(ENG):c.41_51del (p.Leu14fs)	rs1564466393
NM_001114753.3(ENG):c.447G>C (p.Trp149Cys)	rs878853657
NM_001114753.3(ENG):c.465dup (p.Ile156fs)	rs2131890499
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	rs1554810490
NM_001114753.3(ENG):c.558del (p.Ser187fs)	rs2131889490
NM_001114753.3(ENG):c.574_580del (p.Arg192fs)	rs1564456347
NM_001114753.3(ENG):c.579_580del (p.Leu194fs)
NM_001114753.3(ENG):c.588G>A (p.Trp196Ter)	rs1588582860
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	rs1554810378
NM_001114753.3(ENG):c.667del (p.Val223fs)	rs1588582666
NM_001114753.3(ENG):c.721_725del (p.Ser241fs)	rs1064794219
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)	rs1554810234
NM_001114753.3(ENG):c.765del (p.Tyr258fs)	rs1554810232
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	rs1554810215
NM_001114753.3(ENG):c.817-1G>C	rs1564455715
NM_001114753.3(ENG):c.838A>T (p.Lys280Ter)	rs1588581497
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	rs1335718486
NM_001114753.3(ENG):c.904G>T (p.Glu302Ter)	rs1060501419
NM_001114753.3(ENG):c.97C>T (p.Gln33Ter)	rs1564462827
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410

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