ClinVar Miner

List of variants reported as pathogenic 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: 18
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HGVS dbSNP
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546
NM_000046.5(ARSB):c.753C>G (p.Tyr251Ter) rs765711776
NM_000108.5(DLD):c.685G>T (p.Gly229Cys) rs121964990
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
NM_000152.5(GAA):c.1828G>A (p.Ala610Thr) rs144731405
NM_000155.4(GALT):c.650T>C (p.Leu217Pro) rs111033741
NM_000158.4(GBE1):c.998A>T (p.Glu333Val) rs1553684545
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000181.4(GUSB):c.307C>T (p.Arg103Trp) rs786205673
NM_000343.4(SLC5A1):c.765C>G (p.Cys255Trp)
NM_000512.5(GALNS):c.1474G>A (p.Ala492Thr) rs760300454
NM_000512.5(GALNS):c.860C>T (p.Ser287Leu) rs770053354
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001467.6(SLC37A4):c.985+1G>A
NM_006755.2(TALDO1):c.793del (p.Gln265fs) rs727502867

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