ClinVar Miner

List of variants in gene combination ALDOA, LOC112694756 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP
NC_000016.9:g.(?_30066083)_(30081533_?)dup
NM_001243177.4(ALDOA):c.174A>G (p.Gln58=)
NM_001243177.4(ALDOA):c.274+5G>A
NM_001243177.4(ALDOA):c.290G>A (p.Arg97Gln)
NM_001243177.4(ALDOA):c.375C>G (p.Asn125Lys)
NM_001243177.4(ALDOA):c.472G>A (p.Val158Ile)
NM_001243177.4(ALDOA):c.475G>T (p.Val159Leu)
NM_001243177.4(ALDOA):c.541+17del rs886051891
NM_001243177.4(ALDOA):c.563G>A (p.Arg188His)
NM_001243177.4(ALDOA):c.644C>T (p.Ala215Val)
NM_001243177.4(ALDOA):c.702+3G>A
NM_001365304.1(LOC112694756):c.*1006A>G rs886051892
NM_001365304.1(LOC112694756):c.*1245C>T rs144693278
NM_001365304.1(LOC112694756):c.*1257G>A rs886051893
NM_001365304.1(LOC112694756):c.*1269G>A rs142759891
NM_001365304.1(LOC112694756):c.*1415C>T rs200761497
NM_001365304.1(LOC112694756):c.*1454C>T rs142315181
NM_001365304.1(LOC112694756):c.*1467A>T rs886051894
NM_001365304.1(LOC112694756):c.*1481G>A rs530089317
NM_001365304.1(LOC112694756):c.*1548G>A rs138824667
NM_001365304.1(LOC112694756):c.*566C>T rs773402743
NM_001365304.1(LOC112694756):c.*570C>T rs766734350
NM_001365304.1(LOC112694756):c.*573C>T rs145582724
NM_001365304.1(LOC112694756):c.*659G>A rs779556052
NM_001365304.1(LOC112694756):c.*711G>C rs201468609
NM_001365304.1(LOC112694756):c.*784G>A rs747482925
NM_001365304.1(LOC112694756):c.*986C>G rs758499704
NM_184041.4(ALDOA):c.*101G>A rs539833998
NM_184041.4(ALDOA):c.*136C>T rs191226606
NM_184041.4(ALDOA):c.*72T>G rs886051895
NM_184041.4(ALDOA):c.*76C>T rs886051896
NM_184041.4(ALDOA):c.*96C>T rs886051897
NM_184041.4(ALDOA):c.112+4C>T rs200278984
NM_184041.4(ALDOA):c.113-5C>T rs752764982

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