ClinVar Miner

List of variants in gene ENG reported as pathogenic by Medical & Molecular Genetics Group,University of Lincoln

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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NM_000118.3(ENG):c.*111G>T rs1085307436
NM_000118.3(ENG):c.1804del (p.Ile602fs) rs1085307435
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000118.3(ENG):c.682_686del (p.Ser228fs) rs1085307430
NM_000118.3(ENG):c.788T>A (p.Ile263Asn) rs1085307431

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