ClinVar Miner

List of variants reported as benign for Aicardi-Goutieres syndrome

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059
NM_001111.5(ADAR):c.2079+8G>A rs376867928
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055
NM_006397.2(RNASEH2A):c.33A>G (p.Thr11=) rs11554400
NM_006397.2(RNASEH2A):c.412-6T>G rs192358167
NM_006397.2(RNASEH2A):c.462G>A (p.Gln154=) rs7257575
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.662A>G (p.Lys221Arg) rs143534021
NM_006397.2(RNASEH2A):c.777C>T (p.Ser259=) rs76634951
NM_015474.3(SAMHD1):c.1692C>T (p.Ala564=) rs200856791
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664
NM_022168.4(IFIH1):c.1641+1G>C rs35337543
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169
NM_022168.4(IFIH1):c.2454+6T>C rs6748554
NM_022168.4(IFIH1):c.2455-7T>A rs41399348
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355
NM_022168.4(IFIH1):c.2807+1G>A rs35732034
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089
NM_024570.3(RNASEH2B):c.156G>A (p.Leu52=) rs35416748
NM_024570.3(RNASEH2B):c.189A>G (p.Val63=) rs35595258
NM_024570.3(RNASEH2B):c.822+6T>C rs76413207
NM_024570.3(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326
NM_032193.3(RNASEH2C):c.265_267AAG[1] (p.Lys90del) rs141875736
NM_032193.3(RNASEH2C):c.417C>G (p.Gly139=) rs147021687
NM_032193.3(RNASEH2C):c.61T>C (p.Leu21=) rs376140250
NM_033629.6(TREX1):c.*37T>C rs3135946
NM_033629.6(TREX1):c.-68T>C rs3135941
NM_033629.6(TREX1):c.198G>A (p.Lys66=) rs3135943
NM_033629.6(TREX1):c.462T>C (p.Asp154=) rs3135944
NM_033629.6(TREX1):c.531= (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.531T>C (p.Tyr177=) rs11797
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987
NM_033629.6(TREX1):c.912G>A (p.Leu304=) rs3135945
NM_080628.3(TLDC2):c.*172G>A rs35102927
NM_080628.3(TLDC2):c.18-559G>A rs8124728
NM_182710.3(KAT5):c.1264+765G>A rs3372
NM_182710.3(KAT5):c.1265-334T>G rs521678
NM_182710.3(KAT5):c.1265-724A>G rs535111

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