ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome 5 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_080628.3(TLDC2):c.*18-559G>A rs8124728 0.05345
NM_080628.3(TLDC2):c.*18-218T>C rs114791229 0.00502
NM_080628.3(TLDC2):c.*28T>C rs45595032 0.00466
NM_080628.3(TLDC2):c.*18-938G>C rs116489517 0.00406
NM_080628.3(TLDC2):c.*43G>A rs115645414 0.00402
NM_080628.3(TLDC2):c.*18-1G>T rs138927042 0.00229
NM_015474.3(SAMHD1):c.-110T>C rs28372906 0.00188
NM_015474.4(SAMHD1):c.1692C>T (p.Ala564=) rs200856791 0.00026

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