ClinVar Miner

List of variants in gene ENG reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_001114753.3(ENG):c.954G>A (p.Pro318=) rs149590262 0.00019
NM_001114753.3(ENG):c.321G>T (p.Leu107=) rs767907933 0.00015
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) rs756897517 0.00015
NM_001114753.3(ENG):c.850G>A (p.Glu284Lys) rs372045549 0.00010
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.705G>A (p.Thr235=) rs755116051 0.00004
NM_001114753.3(ENG):c.405C>G (p.Thr135=) rs773521685 0.00003
NM_001114753.3(ENG):c.1853-14GCTCCC[3] rs373296026
NM_001114753.3(ENG):c.1853-8_1853-3del
NM_001114753.3(ENG):c.219G>A (p.Thr73=) rs755348996
NM_001114753.3(ENG):c.319C>T (p.Leu107=)
NM_001114753.3(ENG):c.387G>A (p.Glu129=) rs1588583668

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