ClinVar Miner

List of variants reported as uncertain significance for Aicardi-Goutieres syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_001142279.2(RNASEH2B):c.314A>C (p.Asp105Ala) rs201078944
NM_006397.2(RNASEH2A):c.874G>A (p.Gly292Ser) rs768346345
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn) rs373079404
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715

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