ClinVar Miner

List of variants reported as likely pathogenic for Aicardi-Goutieres syndrome

Included ClinVar conditions (20):
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ClinVar version:
Total variants: 141
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554 0.00030
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669 0.00009
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr) rs774964432 0.00004
NM_033629.6(TREX1):c.416del (p.Ala139fs) rs763229085 0.00004
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp) rs77103971 0.00003
NM_033629.6(TREX1):c.290G>A (p.Arg97His) rs200773268 0.00003
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln) rs75718910 0.00002
NM_015474.4(SAMHD1):c.602T>A (p.Ile201Asn) rs138603088 0.00002
NM_015474.4(SAMHD1):c.68C>G (p.Ser23Ter) rs139804668 0.00002
NM_022168.4(IFIH1):c.1852C>T (p.Arg618Ter) rs745937740 0.00002
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter) rs372632599 0.00002
NM_033629.6(TREX1):c.667G>A (p.Ala223Thr) rs766785968 0.00002
NM_006397.3(RNASEH2A):c.323+1G>T rs1388246689 0.00001
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=) rs397515480 0.00001
NM_015474.4(SAMHD1):c.427C>T (p.Arg143Cys) rs387906948 0.00001
NM_015474.4(SAMHD1):c.490C>T (p.Arg164Ter) rs267607027 0.00001
NM_015474.4(SAMHD1):c.509+1G>A rs1192315307 0.00001
NM_015474.4(SAMHD1):c.625G>A (p.Gly209Ser) rs121434516 0.00001
NM_015474.4(SAMHD1):c.646_647del (p.Met216fs) rs768019897 0.00001
NM_015474.4(SAMHD1):c.658C>T (p.Arg220Ter) rs1335417539 0.00001
NM_024570.4(RNASEH2B):c.437-1G>A rs777313709 0.00001
NM_024570.4(RNASEH2B):c.65-13G>A rs1176797481 0.00001
NM_024570.4(RNASEH2B):c.698+1G>A rs367915667 0.00001
NM_032193.4(RNASEH2C):c.227C>T (p.Pro76Leu) rs76091978 0.00001
NM_033629.6(TREX1):c.218C>T (p.Pro73Leu) rs755919767 0.00001
NM_033629.6(TREX1):c.340C>T (p.Arg114Cys) rs760838030 0.00001
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
NC_000020.10:g.(?_35532550)_(35563602_?)del
NC_000020.10:g.(?_35539601)_(35547942_?)dup
NC_000020.10:g.(?_35559143)_(35563612_?)dup
NC_000020.10:g.(?_35563422)_(35563602_?)dup
NC_000020.10:g.(?_35569432)_(35569524_?)dup
NC_000020.11:g.(?_36927172)_(36927262_?)dup
NC_000020.11:g.(?_36930750)_(36930885_?)dup
NM_001111.5(ADAR):c.1602-2A>G
NM_001111.5(ADAR):c.1786-1G>C
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.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2763-1G>A
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.2886-1del rs1696896431
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
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.3254_3255del (p.Thr1085fs) rs2101563488
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
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.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015
NM_006397.3(RNASEH2A):c.127+1G>C
NM_006397.3(RNASEH2A):c.179T>C (p.Leu60Pro) rs373301983
NM_006397.3(RNASEH2A):c.199+1G>C
NM_006397.3(RNASEH2A):c.200-1G>T
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs) rs549586181
NM_006397.3(RNASEH2A):c.320G>A (p.Gly107Glu) rs2145824951
NM_006397.3(RNASEH2A):c.322C>T (p.Arg108Trp) rs76436818
NM_006397.3(RNASEH2A):c.323+1G>A rs1388246689
NM_006397.3(RNASEH2A):c.549+1G>A
NM_006397.3(RNASEH2A):c.549+1G>T
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006397.3(RNASEH2A):c.638-2A>G rs2145830162
NM_006397.3(RNASEH2A):c.717del (p.Thr240fs) rs1403542725
NM_007248.3(TREX1):c.1033_1050del rs1575295176
NM_015474.4(SAMHD1):c.1271-1G>C
NM_015474.4(SAMHD1):c.1271-2A>C
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
NM_015474.4(SAMHD1):c.1410+1G>A
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
NM_015474.4(SAMHD1):c.1476del (p.Lys492fs) rs768409471
NM_015474.4(SAMHD1):c.1608+1G>A rs373731440
NM_015474.4(SAMHD1):c.1608G>A (p.Gln536=) rs1990238054
NM_015474.4(SAMHD1):c.1609-2A>G rs1700306908
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter) rs149846637
NM_015474.4(SAMHD1):c.349-1G>A rs1251155562
NM_015474.4(SAMHD1):c.349-2A>T rs2146137671
NM_015474.4(SAMHD1):c.625+1G>A rs1601141002
NM_015474.4(SAMHD1):c.626-1G>C rs2146127849
NM_015474.4(SAMHD1):c.696+2T>C
NM_015474.4(SAMHD1):c.697-1G>T rs2146119643
NM_015474.4(SAMHD1):c.697-2A>G
NM_015474.4(SAMHD1):c.852+1G>A
NM_015474.4(SAMHD1):c.852+1G>T rs780504624
NM_015474.4(SAMHD1):c.853-1G>C
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
NM_015474.4(SAMHD1):c.953+1G>A rs2146117027
NM_015474.4(SAMHD1):c.968T>C (p.Leu323Pro)
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val) rs587777449
NM_022168.4(IFIH1):c.1246A>C (p.Ile416Leu)
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_022168.4(IFIH1):c.2304+1G>T rs762865950
NM_022168.4(IFIH1):c.2336G>T (p.Arg779Leu) rs587777446
NM_022168.4(IFIH1):c.454-1G>A
NM_022168.4(IFIH1):c.716dup (p.Met240fs) rs1558875029
NM_022168.4(IFIH1):c.986T>C (p.Leu329Pro) rs923064561
NM_024570.4(RNASEH2B):c.136+1del rs75186889
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg) rs75325951
NM_024570.4(RNASEH2B):c.245-2A>C
NM_024570.4(RNASEH2B):c.245-2A>G
NM_024570.4(RNASEH2B):c.2T>C (p.Met1Thr) rs1457494794
NM_024570.4(RNASEH2B):c.322-2A>T
NM_024570.4(RNASEH2B):c.322-3C>G
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly) rs786205483
NM_024570.4(RNASEH2B):c.436+1G>A rs80087649
NM_024570.4(RNASEH2B):c.510+1del rs1593470515
NM_024570.4(RNASEH2B):c.511-1G>A
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly) rs74555752
NM_024570.4(RNASEH2B):c.617-2A>G
NM_024570.4(RNASEH2B):c.64+2_64+6del
NM_024570.4(RNASEH2B):c.65-1G>A
NM_024570.4(RNASEH2B):c.698+1G>C
NM_024570.4(RNASEH2B):c.742-1_742delinsAC
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs) rs772940104
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032193.4(RNASEH2C):c.247G>A (p.Val83Met) rs772757667
NM_032193.4(RNASEH2C):c.412C>T (p.Pro138Ser) rs77834781
NM_032193.4(RNASEH2C):c.450G>T (p.Trp150Cys) rs1064793942
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter) rs1354160835
NM_033629.6(TREX1):c.143_144del (p.Pro48fs) rs748914604
NM_033629.6(TREX1):c.144dup (p.Thr49fs) rs748914604
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln) rs777034646
NM_033629.6(TREX1):c.212_213dup (p.Ala72fs) rs74689946
NM_033629.6(TREX1):c.236_243dup (p.Ser82fs) rs1331920811
NM_033629.6(TREX1):c.23dup (p.Pro10fs) rs781731683
NM_033629.6(TREX1):c.341G>T (p.Arg114Leu)
NM_033629.6(TREX1):c.388G>A (p.Asp130Asn) rs781051771
NM_033629.6(TREX1):c.397del (p.Leu133fs) rs78762691
NM_033629.6(TREX1):c.461A>C (p.Asp154Ala)
NM_033629.6(TREX1):c.541_544dup (p.Ile182fs)
NM_033629.6(TREX1):c.599_601dup (p.Asp200dup) rs74556809
NM_033629.6(TREX1):c.796G>T (p.Glu266Ter) rs757478752
NM_033629.6(TREX1):c.79_96del (p.Ser27_Thr32del) rs2107255387
NM_033629.6(TREX1):c.829A>T (p.Lys277Ter) rs1553820518
NM_033629.6(TREX1):c.858dup (p.Leu287fs) rs2107265977
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_138425.3(C12orf57):c.-277A>G rs781842057
NM_138425.3(C12orf57):c.-279C>G rs180837208

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