ClinVar Miner

List of variants reported as not provided for congenital disorder of glycosylation type I by GenomeConnect, ClinGen

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_178862.3(STT3B):c.895A>G (p.Ile299Val) rs141238380 0.00014
NM_002633.3(PGM1):c.1107C>A (p.Ser369Arg) rs200407907 0.00010
NM_033087.4(ALG2):c.449T>C (p.Phe150Ser) rs377047079 0.00003
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter) rs555710402 0.00001
NM_005216.4(DDOST):c.20C>G (p.Ala7Gly) rs1391192747
NM_005216.5(DDOST):c.1274T>A (p.Phe425Tyr) rs374032054

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