ClinVar Miner

List of variants in gene 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: 10
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MPDU1, 1-BP DEL, 511C
NM_004870.4(MPDU1):c.218G>A (p.Gly73Glu) rs104894586
NM_004870.4(MPDU1):c.221T>C (p.Leu74Ser) rs104894589
NM_004870.4(MPDU1):c.310G>A (p.Gly104Ser) rs1555570093
NM_004870.4(MPDU1):c.356T>C (p.Leu119Pro) rs104894587
NM_004870.4(MPDU1):c.377A>C (p.Gln126Pro) rs1555570110
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_004870.4(MPDU1):c.477del (p.Ser160fs) rs765585873
NM_004870.4(MPDU1):c.619-2A>G rs368123972
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808

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