ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_019109.4(ALG1):c.800G>A (p.Ser267Asn) rs17849848

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