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

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001114753.3(ENG):c.1134G>A (p.Ala378=)	rs1329127701	0.00003
NM_001114753.3(ENG):c.-127C>T	rs1060501408
NM_001114753.3(ENG):c.155G>A (p.Gly52Asp)	rs1564462765
NM_001114753.3(ENG):c.360+4A>G	rs1564457752
NM_001114753.3(ENG):c.360+5G>A	rs1060501417
NM_001114753.3(ENG):c.503TCC[4] (p.Leu170_Arg171insLeu)	rs1830619692
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)	rs1588583488
NM_001114753.3(ENG):c.620G>A (p.Cys207Tyr)	rs1830599119
NM_001114753.3(ENG):c.646A>G (p.Lys216Glu)	rs1830597676
NM_001114753.3(ENG):c.763G>T (p.Gly255Cys)	rs1830580925
NM_001114753.3(ENG):c.896T>G (p.Leu299Arg)	rs1830569662
NM_001114753.3(ENG):c.899T>C (p.Leu300Pro)	rs1335718486
NM_001114753.3(ENG):c.923C>A (p.Ala308Asp)	rs1482440395
NM_001114753.3(ENG):c.991G>A (p.Gly331Ser)	rs1060501410

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