ClinVar Miner

List of variants in gene combination ALDOA, LOC112694756 reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_001243177.4(ALDOA):c.1233C>T (p.Leu411=)
NM_001243177.4(ALDOA):c.609T>C (p.Arg203=)
NM_001243177.4(ALDOA):c.921C>T (p.Thr307=)
NM_001365304.1(LOC112694756):c.*1349G>A rs532473202
NM_001365304.1(LOC112694756):c.*1529A>G rs143419532
NM_001365304.1(LOC112694756):c.*1548G>A rs138824667
NM_184041.4(ALDOA):c.112+4C>T rs200278984
NM_184041.4(ALDOA):c.113-5C>T rs752764982
NM_184043.2(ALDOA):c.1038C>T (p.Ser346=) rs77290575

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