ClinVar Miner

List of variants reported as pathogenic for congenital disorder of glycosylation type I by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000303.3(PMM2):c.255+1G>A rs1060499598
NM_000303.3(PMM2):c.255+2T>C rs139716296
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378

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