ClinVar Miner

List of variants studied for congenital disorder of glycosylation type I by SIB Swiss Institute of Bioinformatics

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.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278

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