ClinVar Miner

List of variants studied for MPI-congenital disorder of glycosylation by Sanford Children's Health Research Center, Sanford-Burnham-Prebys Medical Discovery Institute

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002435.3(MPI):c.1253G>A (p.Arg418His) rs863225087 0.00001
NM_002435.3(MPI):c.1205A>G (p.Glu402Gly) rs863225086

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