ClinVar Miner

List of variants reported as benign for MPI-congenital disorder of glycosylation by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_002435.3(MPI):c.684C>T (p.Asn228=) rs139190144 0.01985
NM_002435.3(MPI):c.762C>T (p.Ile254=) rs12440159 0.00855
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_002435.3(MPI):c.414G>A (p.Met138Ile) rs150217523 0.00227
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_002435.3(MPI):c.1125G>A (p.Gly375=) rs552854858 0.00016
NM_002435.3(MPI):c.670+9A>G rs7495739

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