ClinVar Miner

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

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_033629.6(TREX1):c.*37T>C rs3135946
NM_033629.6(TREX1):c.-68T>C rs3135941
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_080628.3(TLDC2):c.18-559G>A rs8124728
NM_182710.3(KAT5):c.1264+765G>A rs3372
NM_182710.3(KAT5):c.1265-334T>G rs521678
NM_182710.3(KAT5):c.1265-724A>G rs535111

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