ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Division of Human Genetics,Children's Hospital of Philadelphia

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_001041.4(SI):c.1730T>G (p.Val577Gly) rs121912615
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_005609.4(PYGM):c.1726C>T (p.Arg576Ter) rs119103255

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