ClinVar Miner

List of variants in gene ENG reported as likely pathogenic by GeneDx

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.360+5G>C rs1060501417
NM_000118.3(ENG):c.374T>A (p.Val125Asp) rs750115837
NM_000118.3(ENG):c.583del (p.Glu195fs) rs1554810413
NM_000118.3(ENG):c.895del (p.Leu299fs) rs1064795636
NM_000118.3(ENG):c.896_991+90del rs1554810125

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