ClinVar Miner

List of variants reported as pathogenic for Aicardi-Goutieres syndrome by Victorian Clinical Genetics Services,Murdoch Childrens Research Institute

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_033629.6(TREX1):c.58dup (p.Glu20fs) rs78300695
NM_033629.6(TREX1):c.629G>A (p.Trp210Ter) rs184953805

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