ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_006397.2(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971
NM_015474.3(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554

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