ClinVar Miner

List of variants reported as benign for ALG12-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

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_024105.4(ALG12):c.885A>G (p.Ala295=) rs8135963 0.36465
NM_024105.4(ALG12):c.*51A>G rs1321 0.25423
NM_024105.4(ALG12):c.664+9G>C rs9616368 0.23841
NM_024105.4(ALG12):c.664+12A>G rs9616204 0.23839
NM_024105.4(ALG12):c.-141T>C rs9616378 0.22442
NM_024105.4(ALG12):c.1177A>G (p.Ile393Val) rs3922872 0.09076
NM_024105.4(ALG12):c.99G>A (p.Val33=) rs76707654 0.04368
NM_024105.4(ALG12):c.*240G>A rs76848348 0.03225
NM_024105.4(ALG12):c.1029G>A (p.Ala343=) rs62233155 0.02811
NM_024105.4(ALG12):c.*280G>A rs116765369 0.02266
NM_024105.4(ALG12):c.-203G>A rs9616379

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