ClinVar Miner

List of variants in gene ENG reported as uncertain significance by GeneDx

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Gene type:
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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001114753.3(ENG):c.1015G>A (p.Ala339Thr) rs761463410 0.00008
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001114753.3(ENG):c.-126G>A rs940261789 0.00005
NM_001114753.3(ENG):c.1067T>A (p.Met356Lys) rs138190783 0.00003
NM_001114753.3(ENG):c.1058A>G (p.Glu353Gly) rs868730895 0.00001
NM_001114753.3(ENG):c.1955G>A (p.Cys652Tyr) rs774869649 0.00001
NM_001114753.3(ENG):c.68-17G>A rs570198729 0.00001
NM_001114753.3(ENG):c.-2G>A
NM_001114753.3(ENG):c.1018C>T (p.Pro340Ser) rs773463077
NM_001114753.3(ENG):c.1099G>C (p.Ala367Pro) rs372371435
NM_001114753.3(ENG):c.137C>T (p.Thr46Ile) rs1393437924
NM_001114753.3(ENG):c.182T>C (p.Ile61Thr)
NM_001114753.3(ENG):c.1852+21_1852+22del
NM_001114753.3(ENG):c.1961C>G (p.Thr654Ser) rs1050077
NM_001114753.3(ENG):c.360+6T>G rs2131894931
NM_001114753.3(ENG):c.411G>T (p.Glu137Asp)
NM_001114753.3(ENG):c.512G>C (p.Arg171Pro) rs756980265
NM_001114753.3(ENG):c.578C>T (p.Thr193Met) rs775442178
NM_001114753.3(ENG):c.581T>C (p.Leu194Pro) rs2131889364
NM_001114753.3(ENG):c.706_708del (p.Val236del) rs1064794221
NM_001114753.3(ENG):c.713T>A (p.Val238Glu) rs1060501415
NM_001114753.3(ENG):c.742G>C (p.Asp248His)
NM_001114753.3(ENG):c.764G>T (p.Gly255Val) rs2131887828
NM_001114753.3(ENG):c.933_968del (p.Ala312_Val323del) rs2131886859
NM_001114753.3(ENG):c.98A>C (p.Gln33Pro) rs863223531

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