ClinVar Miner

List of variants in gene ENG reported as pathogenic by NIHR Bioresource Rare Diseases, University of Cambridge

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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.1080_1083del (p.Thr361fs) rs863223540
NM_001114753.3(ENG):c.146del (p.Val49fs) rs1831082309
NM_001114753.3(ENG):c.159C>A (p.Cys53Ter) rs148475405
NM_001114753.3(ENG):c.164del (p.Ala55fs) rs1831081460
NM_001114753.3(ENG):c.166C>T (p.Gln56Ter) rs1588596879
NM_001114753.3(ENG):c.1A>G (p.Met1Val) rs1060501418
NM_001114753.3(ENG):c.208G>T (p.Glu70Ter) rs1179814153
NM_001114753.3(ENG):c.220-225_991+123del
NM_001114753.3(ENG):c.220-226_1134+331del
NM_001114753.3(ENG):c.220-988_1134+331del
NM_001114753.3(ENG):c.277C>T (p.Arg93Ter) rs886039506
NM_001114753.3(ENG):c.298_299del (p.Ser100fs) rs1830715784
NM_001114753.3(ENG):c.328C>T (p.Gln110Ter) rs1830713927
NM_001114753.3(ENG):c.360+1G>A rs886039505
NM_001114753.3(ENG):c.370del (p.Leu124fs) rs1830624241
NM_001114753.3(ENG):c.39del (p.Leu14fs) rs1829096531
NM_001114753.3(ENG):c.496del (p.Gln166fs) rs1830620247
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+229_991+123del
NM_001114753.3(ENG):c.524-1_689+1del rs1830595697
NM_001114753.3(ENG):c.63dup (p.Thr22fs) rs1829096099
NM_001114753.3(ENG):c.667dup (p.Val223fs) rs1588582666
NM_001114753.3(ENG):c.68-4227_219+104del
NM_001114753.3(ENG):c.689+1G>A rs1588582594
NM_001114753.3(ENG):c.690-2A>G rs1564455970
NM_001114753.3(ENG):c.736del (p.Asp246fs) rs1554810249
NM_001114753.3(ENG):c.761_767dup (p.Pro257fs) rs1830580607
NM_001114753.3(ENG):c.772del (p.Tyr258fs) rs1830580093
NM_001114753.3(ENG):c.774C>A (p.Tyr258Ter) rs537154767
NM_001114753.3(ENG):c.777_778dup (p.Ser260fs) rs1830579577
NM_001114753.3(ENG):c.817-1G>A rs1564455715
NM_001114753.3(ENG):c.899_901delinsC (p.Leu300fs) rs1830569401
NM_001114753.3(ENG):c.967_968del (p.Val323fs) rs1830566817
NM_001114753.3(ENG):c.992-2A>G rs1588580932
Single allele

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