List of variants in gene ENG reported as pathogenic for not provided

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: 63

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.524-2A>G	rs1060501414	0.00001
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001114753.3(ENG):c.1029_1060delinsATGGTGG (p.Thr344fs)	rs1064792934
NM_001114753.3(ENG):c.1078C>T (p.Gln360Ter)
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.1121_1122delinsGC (p.Lys374Ser)	rs2131885751
NM_001114753.3(ENG):c.1121_1124del (p.Lys374fs)	rs1064793734
NM_001114753.3(ENG):c.1122dup (p.Glu375fs)	rs2131885756
NM_001114753.3(ENG):c.132_133del (p.Thr45fs)	rs2131918640
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.166C>T (p.Gln56Ter)	rs1588596879
NM_001114753.3(ENG):c.219+5G>C	rs1554812252
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.392dup (p.Val133fs)
NM_001114753.3(ENG):c.397dup (p.Val133fs)	rs1588583640
NM_001114753.3(ENG):c.41_51del (p.Leu14fs)	rs1564466393
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.457_458del (p.Arg153fs)	rs2131890509
NM_001114753.3(ENG):c.469del (p.Thr157fs)	rs1554810494
NM_001114753.3(ENG):c.496dup (p.Gln166fs)	rs1830620247
NM_001114753.3(ENG):c.511C>T (p.Arg171Ter)	rs1554810490
NM_001114753.3(ENG):c.523+1G>C	rs113930974
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.574_580del (p.Arg192fs)	rs1564456347
NM_001114753.3(ENG):c.595_596dup (p.Thr200fs)	rs1554810405
NM_001114753.3(ENG):c.640_643del (p.Gly214fs)	rs864622666
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)	rs1554810378
NM_001114753.3(ENG):c.67+1G>A	rs1554813783
NM_001114753.3(ENG):c.67+2T>C	rs2131936480
NM_001114753.3(ENG):c.68-1G>A	rs878853659
NM_001114753.3(ENG):c.689+2T>C	rs863223535
NM_001114753.3(ENG):c.690-2A>T	rs1564455970
NM_001114753.3(ENG):c.712del (p.Val238fs)	rs886041548
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.743del (p.Asp248fs)	rs1588581961
NM_001114753.3(ENG):c.760C>T (p.Gln254Ter)	rs1554810234
NM_001114753.3(ENG):c.772del (p.Tyr258fs)	rs1830580093
NM_001114753.3(ENG):c.781_782dup (p.Trp261fs)	rs2131887716
NM_001114753.3(ENG):c.808C>T (p.Gln270Ter)	rs1554810215
NM_001114753.3(ENG):c.816G>A (p.Trp272Ter)	rs886041326
NM_001114753.3(ENG):c.880_881del (p.Asp294fs)	rs886042916
NM_001114753.3(ENG):c.895del (p.Leu299fs)	rs1064795636
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.954_955delinsACGAAGACAA (p.Leu319fs)
NM_001114753.3(ENG):c.97C>T (p.Gln33Ter)	rs1564462827
NM_001114753.3(ENG):c.98_101del (p.Gln33fs)	rs1554812283
NM_001114753.3(ENG):c.991+2T>C	rs1564455554
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410
NM_001114753.3(ENG):c.992-2A>G	rs1588580932
NM_001114753.3(ENG):c.997_1001del (p.Arg333fs)

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