ClinVar Miner

List of variants reported as likely benign for Aicardi-Goutieres syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001142279.2(RNASEH2B):c.-210G>C rs112702177
NM_001142279.2(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_001142279.2(RNASEH2B):c.741+4486T>C rs76413207
NM_001142279.2(RNASEH2B):c.741+6889G>T rs144408326
NM_001142279.2(RNASEH2B):c.741+6955dup rs75254367
NM_006397.2(RNASEH2A):c.*120C>T rs73925216
NM_006397.2(RNASEH2A):c.-16T>C rs1046220
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
NM_006397.2(RNASEH2A):c.550-11T>C rs7247253
NM_006397.2(RNASEH2A):c.605T>C (p.Leu202Ser) rs7247284
NM_006397.2(RNASEH2A):c.615T>A (p.Asp205Glu) rs62619782
NM_006397.2(RNASEH2A):c.637+13G>A rs73503453
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_015474.3(SAMHD1):c.-110T>C rs28372906
NM_015474.3(SAMHD1):c.-166G>T rs546207604
NM_015474.3(SAMHD1):c.-31T>C rs142162198
NM_015474.3(SAMHD1):c.-39C>A rs368233437
NM_015474.3(SAMHD1):c.1593G>C (p.Arg531Ser) rs145735112
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_015474.3(SAMHD1):c.195G>T (p.Leu65=) rs202024857
NM_015474.3(SAMHD1):c.334G>A (p.Val112Ile) rs144353824
NM_015474.3(SAMHD1):c.77C>T (p.Pro26Leu) rs147240777
NM_032193.3(RNASEH2C):c.-10A>G rs77371161
NM_032193.3(RNASEH2C):c.268_270delAAG rs141875736
NM_033629.6(TREX1):c.-60C>T rs2279076
NM_033629.6(TREX1):c.183G>A (p.Pro61=) rs55852466
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala) rs200510205
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_080628.3(TLDC2):c.*28T>C rs45595032
NM_080628.3(TLDC2):c.*43G>A rs115645414
NM_080628.3(TLDC2):c.18-1G>T rs138927042
NM_080628.3(TLDC2):c.18-218T>C rs114791229
NM_080628.3(TLDC2):c.18-25A>G rs147220022
NM_080628.3(TLDC2):c.18-938G>C rs116489517
NM_130384.3(ATRIP):c.*267T>C rs148393533
NM_130384.3(ATRIP):c.*272del rs3135939
NM_130384.3(ATRIP):c.*665C>T rs548710061
NM_182710.3(KAT5):c.1264+704G>A rs4645934
NM_182710.3(KAT5):c.1265-428T>C rs373799308
NM_182710.3(KAT5):c.1265-583G>A rs4645936
NM_182710.3(KAT5):c.1425-36dup rs142614068

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