ClinVar Miner

List of variants in gene LOC100996842, MPDU1 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_004870.4(MPDU1):c.10G>A (p.Glu4Lys)
NM_004870.4(MPDU1):c.19G>T (p.Gly7Ter)
NM_004870.4(MPDU1):c.2T>C (p.Met1Thr) rs104894588
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720

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