ClinVar Miner

List of variants reported as likely pathogenic for congenital disorder of glycosylation type I by Institute of Human Genetics,Klinikum rechts der Isar

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NM_004341.5(CAD):c.1843-3C>T rs1057519262
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586

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