ClinVar Miner

List of variants in gene ENO3 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP
NM_053013.4(ENO3):c.1047G>A (p.Ser349=) rs527864393
NM_053013.4(ENO3):c.1093dup (p.Trp365fs)
NM_053013.4(ENO3):c.1097G>A (p.Gly366Glu)
NM_053013.4(ENO3):c.1123G>A (p.Glu375Lys) rs770822790
NM_053013.4(ENO3):c.115G>A (p.Ala39Thr)
NM_053013.4(ENO3):c.1160G>A (p.Gly387Glu)
NM_053013.4(ENO3):c.1180A>C (p.Lys394Gln)
NM_053013.4(ENO3):c.1194dup (p.Cys399fs) rs757440599
NM_053013.4(ENO3):c.1198C>T (p.Arg400Cys)
NM_053013.4(ENO3):c.11A>C (p.Gln4Pro)
NM_053013.4(ENO3):c.1235+7C>T
NM_053013.4(ENO3):c.166C>T (p.Arg56Cys)
NM_053013.4(ENO3):c.240G>A (p.Lys80=)
NM_053013.4(ENO3):c.249C>T (p.Ser83=) rs145859308
NM_053013.4(ENO3):c.296G>A (p.Gly99Glu) rs1597699325
NM_053013.4(ENO3):c.326A>G (p.Asn109Ser)
NM_053013.4(ENO3):c.340G>A (p.Val114Met)
NM_053013.4(ENO3):c.363G>A (p.Ala121=) rs201872558
NM_053013.4(ENO3):c.412G>A (p.Ala138Thr)
NM_053013.4(ENO3):c.417G>A (p.Gly139=) rs142390642
NM_053013.4(ENO3):c.452A>G (p.Asn151Ser) rs560867570
NM_053013.4(ENO3):c.467G>A (p.Gly156Asp) rs121918403
NM_053013.4(ENO3):c.493A>G (p.Met165Val)
NM_053013.4(ENO3):c.49A>G (p.Asn17Asp)
NM_053013.4(ENO3):c.518T>G (p.Val173Gly) rs1597702371
NM_053013.4(ENO3):c.544A>G (p.Met182Val) rs1401088566
NM_053013.4(ENO3):c.554G>T (p.Gly185Val) rs200324278
NM_053013.4(ENO3):c.555C>T (p.Gly185=)
NM_053013.4(ENO3):c.64G>A (p.Val22Met) rs148673221
NM_053013.4(ENO3):c.698C>T (p.Ala233Val) rs142982636
NM_053013.4(ENO3):c.736G>A (p.Val246Met)
NM_053013.4(ENO3):c.772G>A (p.Asp258Asn)
NM_053013.4(ENO3):c.774T>G (p.Asp258Glu) rs763327091
NM_053013.4(ENO3):c.77C>A (p.Thr26Lys) rs199677913
NM_053013.4(ENO3):c.785A>G (p.Lys262Arg) rs886053166
NM_053013.4(ENO3):c.788C>T (p.Ser263Leu)
NM_053013.4(ENO3):c.79G>A (p.Ala27Thr)
NM_053013.4(ENO3):c.834del (p.Glu278fs) rs779920188
NM_053013.4(ENO3):c.865+3G>A rs147327991
NM_053013.4(ENO3):c.926_929dup (p.Val311fs) rs751624358

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