ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by SIB Swiss Institute of Bioinformatics

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.936G>T (p.Trp312Cys) rs759384989
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258

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