ClinVar Miner

List of variants studied for Aicardi-Goutieres syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (14):
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ClinVar version:
Total variants: 12
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NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.2(RNASEH2A):c.874G>A (p.Gly292Ser)
NM_015474.3(SAMHD1):c.1445G>A (p.Ser482Asn)
NM_022168.4(IFIH1):c.1166G>A (p.Gly389Glu) rs765985079
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_024570.3(RNASEH2B):c.314A>C (p.Asp105Ala)
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030
NM_033629.6(TREX1):c.923C>G (p.Ser308Cys) rs769885715

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