ClinVar Miner

List of variants in gene ADAR studied for Aicardi-Goutieres syndrome

Included ClinVar conditions (14):
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Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP
NM_001111.5(ADAR):c.1042A>G (p.Thr348Ala) rs1456341426
NM_001111.5(ADAR):c.1051C>T (p.Pro351Ser) rs1557886901
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) rs398122898
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala)
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys)
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp)
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr)
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln)
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg)
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser)
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) rs768943773
NM_001111.5(ADAR):c.165G>T (p.Pro55=) rs570176840
NM_001111.5(ADAR):c.1725C>T (p.Ala575=) rs144279106
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly)
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+4G>A
NM_001111.5(ADAR):c.1824_1826CTT[1] (p.Phe610del)
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049
NM_001111.5(ADAR):c.1890C>T (p.Cys630=) rs558496566
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059
NM_001111.5(ADAR):c.2079+8G>A rs376867928
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile)
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668
NM_001111.5(ADAR):c.2564dup (p.Thr856fs)
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2668+6T>C rs190881240
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala)
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032
NM_001111.5(ADAR):c.3335A>T (p.Tyr1112Phe) rs398122895
NM_001111.5(ADAR):c.3337G>C (p.Asp1113His) rs398122894
NM_001111.5(ADAR):c.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter)
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln)
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His)
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu)
NM_001111.5(ADAR):c.475C>G (p.His159Asp)
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr)
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111.5(ADAR):c.594G>A (p.Ala198=) rs563756226
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala)
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.718G>C (p.Asp240His)
NM_001111.5(ADAR):c.772G>A (p.Gly258Arg) rs201143561
NM_001111.5(ADAR):c.943G>T (p.Ala315Ser) rs765669048
NM_001111.5(ADAR):c.973A>G (p.Thr325Ala) rs771889800
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr)
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu)

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