ClinVar Miner

List of variants studied for disorder of multiple glycosylation by Daryl Scott Lab, Baylor College of Medicine

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.265C>T (p.Arg89Cys) rs766457949 0.00012
NM_004341.5(CAD):c.2492G>A (p.Arg831His) rs779903352 0.00001
NM_018389.5(SLC35C1):c.440G>A (p.Arg147His) rs886048314 0.00001
NM_018714.3(COG1):c.828G>T (p.Leu276Phe) rs769317853 0.00001
NM_153603.4(COG7):c.109G>A (p.Ala37Thr) rs1327432623 0.00001
NM_018389.5(SLC35C1):c.503_505del (p.Phe168del) rs587777655

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