ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_033629.6(TREX1):c.206_207TG[3] (p.Val71fs) rs74689946
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_033629.6(TREX1):c.366_368dup (p.Ala123dup) rs77371662

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