ClinVar Miner

List of variants reported as likely pathogenic for congenital disorder of glycosylation type I by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
NM_000303.3(PMM2):c.66+1G>T rs937726878
NM_019109.4(ALG1):c.1187+3A>G rs369160589
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378

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