ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type I by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.47C>T (p.Thr16Ile) rs1162452555
NM_001099922.3(ALG13):c.230T>C (p.Val77Ala) rs1933636414
NM_005216.5(DDOST):c.1028T>C (p.Ile343Thr)
NM_019109.5(ALG1):c.946G>A (p.Val316Ile) rs150272167
NM_024079.5(ALG8):c.1511C>G (p.Thr504Arg) rs2136868362

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