ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by Centogene AG - the Rare Disease Company

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003

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