ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by GenomeConnect, ClinGen

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311
NM_002435.3(MPI):c.214A>C (p.Ser72Arg)
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)
NM_005216.4(DDOST):c.1325T>A (p.Phe442Tyr)
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_178862.3(STT3B):c.895A>G (p.Ile299Val)

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