ClinVar Miner

List of variants reported as pathogenic for SLC35A2-congenital disorder of glycosylation by University of Washington Center for Mendelian Genomics, University of Washington

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_005660.3(SLC35A2):c.3G>A (p.Met1Ile) rs587776962
NM_005660.3(SLC35A2):c.991G>A (p.Val331Ile) rs587776961
SLC35A2:c.15_91+48delinsA rs1557044030

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