ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type II by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006348.5(COG5):c.298C>T (p.Leu100Phe) rs150351852 0.00096
NM_001135146.2(SLC39A8):c.337T>C (p.Cys113Arg) rs950101299
NM_002408.4(MGAT2):c.511C>A (p.Pro171Thr) rs1327830771
NM_002408.4(MGAT2):c.797C>T (p.Pro266Leu) rs1566505007
NM_006348.5(COG5):c.959T>C (p.Leu320Pro) rs1584729488
NM_018389.5(SLC35C1):c.842G>A (p.Gly281Asp) rs1265362913

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