ClinVar Miner

List of variants in gene MPI reported as benign 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
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741
NM_002435.3(MPI):c.345+15G>A rs11638130
NM_002435.3(MPI):c.345+16C>T rs143242949
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191

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