ClinVar Miner

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

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 137
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HGVS dbSNP
NM_001111.5(ADAR):c.1000C>G (p.Leu334Val)
NM_001111.5(ADAR):c.1003A>T (p.Ile335Phe) rs34154757
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1024G>T (p.Asp342Tyr)
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.1062T>G (p.His354Gln)
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) rs398122898
NM_001111.5(ADAR):c.1089G>A (p.Met363Ile)
NM_001111.5(ADAR):c.108C>T (p.Pro36=) rs1571113155
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1107G>A (p.Thr369=) rs181731036
NM_001111.5(ADAR):c.1110C>G (p.Asn370Lys)
NM_001111.5(ADAR):c.1125C>T (p.Thr375=) rs145166589
NM_001111.5(ADAR):c.1129C>G (p.Pro377Ala) rs1571107810
NM_001111.5(ADAR):c.115T>G (p.Phe39Val)
NM_001111.5(ADAR):c.1177A>G (p.Asn393Asp)
NM_001111.5(ADAR):c.1192A>G (p.Asn398Asp)
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884
NM_001111.5(ADAR):c.1257A>C (p.Leu419Phe)
NM_001111.5(ADAR):c.1313A>G (p.Tyr438Cys) rs1571107070
NM_001111.5(ADAR):c.1319G>A (p.Gly440Asp) rs1274234563
NM_001111.5(ADAR):c.1327A>G (p.Lys443Glu)
NM_001111.5(ADAR):c.1400G>A (p.Arg467His)
NM_001111.5(ADAR):c.1402G>A (p.Ala468Thr) rs761708272
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156
NM_001111.5(ADAR):c.1547G>A (p.Ser516Asn)
NM_001111.5(ADAR):c.1613A>G (p.Gln538Arg) rs1571096481
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) rs768943773
NM_001111.5(ADAR):c.1654G>A (p.Gly552Arg)
NM_001111.5(ADAR):c.1732A>G (p.Ser578Gly) rs374014885
NM_001111.5(ADAR):c.1760A>G (p.Tyr587Cys) rs17843865
NM_001111.5(ADAR):c.1765A>G (p.Thr589Ala)
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326
NM_001111.5(ADAR):c.176A>G (p.Lys59Arg)
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1785+4G>A rs1571095587
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala)
NM_001111.5(ADAR):c.1806C>T (p.Pro602=) rs757296904
NM_001111.5(ADAR):c.1824_1826CTT[1] (p.Phe610del) rs759833046
NM_001111.5(ADAR):c.1841G>A (p.Ser614Asn)
NM_001111.5(ADAR):c.1846G>A (p.Val616Ile) rs570647049
NM_001111.5(ADAR):c.1851C>A (p.Thr617=) rs764879657
NM_001111.5(ADAR):c.185C>T (p.Pro62Leu)
NM_001111.5(ADAR):c.1865G>A (p.Cys622Tyr)
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059
NM_001111.5(ADAR):c.1934+8C>T rs376025865
NM_001111.5(ADAR):c.200C>T (p.Ser67Phe)
NM_001111.5(ADAR):c.2052G>A (p.Ala684=) rs148041309
NM_001111.5(ADAR):c.2069C>T (p.Ser690Phe)
NM_001111.5(ADAR):c.2079+8G>A rs376867928
NM_001111.5(ADAR):c.2151C>T (p.Gly717=)
NM_001111.5(ADAR):c.215G>A (p.Arg72Gln)
NM_001111.5(ADAR):c.217C>G (p.Pro73Ala)
NM_001111.5(ADAR):c.2196G>A (p.Leu732=)
NM_001111.5(ADAR):c.2202C>T (p.Tyr734=) rs375867672
NM_001111.5(ADAR):c.2207G>A (p.Arg736His)
NM_001111.5(ADAR):c.222G>A (p.Arg74=) rs150423721
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn)
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile) rs145849344
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448
NM_001111.5(ADAR):c.2496+9G>A rs199698434
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln) rs750048114
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668
NM_001111.5(ADAR):c.2564dup (p.Thr856fs) rs1571065237
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.2649C>T (p.Val883=) rs200989942
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) rs142456688
NM_001111.5(ADAR):c.2762+10G>A rs879809934
NM_001111.5(ADAR):c.2762+7G>A rs201315688
NM_001111.5(ADAR):c.2785A>C (p.Lys929Gln)
NM_001111.5(ADAR):c.2795C>G (p.Ser932Cys)
NM_001111.5(ADAR):c.2804C>T (p.Ala935Val)
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln)
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu)
NM_001111.5(ADAR):c.2886-11_2886-10del rs557801982
NM_001111.5(ADAR):c.2886-1del
NM_001111.5(ADAR):c.2895G>A (p.Pro965=) rs149207057
NM_001111.5(ADAR):c.2907C>T (p.Gly969=)
NM_001111.5(ADAR):c.298= (p.Arg100=) rs1466731
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3002G>A (p.Arg1001His)
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.3082G>A (p.Gly1028Arg)
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His) rs773129591
NM_001111.5(ADAR):c.3132C>T (p.Asn1044=) rs771119857
NM_001111.5(ADAR):c.3171G>A (p.Leu1057=) rs149496690
NM_001111.5(ADAR):c.3215G>T (p.Ser1072Ile) rs1553207540
NM_001111.5(ADAR):c.3222G>T (p.Gly1074=)
NM_001111.5(ADAR):c.3278A>G (p.Asp1093Gly)
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032
NM_001111.5(ADAR):c.3316-4C>T rs765304172
NM_001111.5(ADAR):c.3316-8A>C rs767832906
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.3363T>A (p.Thr1121=) rs373934702
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3432C>G (p.Gly1144=) rs568610646
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.3509C>T (p.Ser1170Phe)
NM_001111.5(ADAR):c.3521G>A (p.Arg1174His) rs866441514
NM_001111.5(ADAR):c.3523A>C (p.Arg1175=) rs146625055
NM_001111.5(ADAR):c.3568C>T (p.Arg1190Cys)
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met)
NM_001111.5(ADAR):c.3584C>G (p.Ala1195Gly) rs986264460
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) rs1463382499
NM_001111.5(ADAR):c.475C>G (p.His159Asp) rs921496664
NM_001111.5(ADAR):c.502C>A (p.Pro168Thr) rs1571111089
NM_001111.5(ADAR):c.518A>G (p.Asn173Ser) rs201331183
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.582G>A (p.Leu194=) rs762045154
NM_001111.5(ADAR):c.592G>A (p.Ala198Thr)
NM_001111.5(ADAR):c.594G>A (p.Ala198=) rs563756226
NM_001111.5(ADAR):c.643G>A (p.Gly215Ser)
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn) rs199906332
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471
NM_001111.5(ADAR):c.665A>T (p.Asn222Ile) rs1557887942
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001111.5(ADAR):c.718G>C (p.Asp240His) rs1374526080
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.983G>A (p.Arg328Gln) rs371476324
NM_001111.5(ADAR):c.989T>C (p.Ile330Thr) rs770793371
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu) rs1571113228

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