ClinVar Miner

List of variants in gene MPI reported as pathogenic 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: 8
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HGVS dbSNP
MPI, 1-BP INS, 166C
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly) rs863225086
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087
NM_002435.3(MPI):c.166dup (p.Arg56fs) rs786204593
NM_002435.3(MPI):c.305C>T (p.Ser102Leu) rs104894494
NM_002435.3(MPI):c.413T>C (p.Met138Thr) rs104894495
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002435.3(MPI):c.884G>A (p.Arg295His) rs28928906

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