ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Department of Medical Genetics and Molecular Diagnostic Laboratory, Shanghai Children's Medical Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000507.4(FBP1):c.355G>A (p.Asp119Asn) rs758609113
NM_000507.4(FBP1):c.490G>A (p.Gly164Ser) rs121918188
NM_000507.4(FBP1):c.704del (p.Pro235fs) rs774362519
NM_000507.4(FBP1):c.720_729del (p.Tyr241fs) rs1060499726
NM_000507.4(FBP1):c.825+1G>A rs111437558
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs) rs757653154

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