ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000152.5(GAA):c.1132_1136delinsGGCTA (p.Tyr378_Ser379delinsGlyTyr) rs1598577393
NM_000284.4(PDHA1):c.511G>T (p.Val171Leu) rs1602226867
NM_000642.3(AGL):c.113C>G (p.Thr38Ser) rs1557746521
NM_006755.2(TALDO1):c.604G>A (p.Asp202Asn) rs140985565
NM_031229.4(RBCK1):c.998C>T (p.Ser333Leu) rs143194967

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