ClinVar Miner

List of variants reported as benign for ALG6-congenital disorder of glycosylation 1C by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_013339.4(ALG6):c.*761T>C rs3009572 0.60547
NM_013339.4(ALG6):c.-136C>G rs34542411 0.20075
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_013339.4(ALG6):c.*1322A>G rs75309742 0.04045
NM_013339.4(ALG6):c.*844T>C rs2884922 0.02393
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01480

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