ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Pathology and Clinical Laboratory Medicine,King Fahad Medical City

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
NM_000152.5(GAA):c.896T>C (p.Leu299Pro) rs121907940
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000340.2(SLC2A2):c.1250C>T (p.Pro417Leu) rs121909744
NM_000507.4(FBP1):c.114_119dup (p.Cys39_Thr40dup) rs1554682769
NM_000512.5(GALNS):c.1429_1455del (p.Glu477_Gln485del)
NM_001040716.2(PC):c.1480C>T (p.Gln494Ter)
NM_001040716.2(PC):c.806G>A (p.Arg269Gln) rs1349343839
NM_002863.5(PYGL):c.1768+1G>A rs113993982

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