ClinVar Miner

List of variants reported as pathogenic for ADAR-related type 1 interferonopathy

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689 0.00162
NM_001111.5(ADAR):c.3494T>C (p.Phe1165Ser) rs28936681 0.00003
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp) rs1044845711 0.00001
NC_000001.10:g.(?_154422067)_(154580482_?)del
NM_001111.5(ADAR):c.1000del (p.Val333_Leu334insTer)
NM_001111.5(ADAR):c.1011_1012del (p.Met337fs)
NM_001111.5(ADAR):c.1076_1080del (p.Lys359fs) rs398122898
NM_001111.5(ADAR):c.1096_1097del (p.Lys366fs)
NM_001111.5(ADAR):c.133G>T (p.Glu45Ter)
NM_001111.5(ADAR):c.1420C>T (p.Arg474Ter) rs121912421
NM_001111.5(ADAR):c.1472C>G (p.Ser491Ter)
NM_001111.5(ADAR):c.1526del (p.Leu508_Leu509insTer)
NM_001111.5(ADAR):c.1576C>T (p.Gln526Ter)
NM_001111.5(ADAR):c.1630C>T (p.Arg544Ter) rs768943773
NM_001111.5(ADAR):c.1675C>T (p.Gln559Ter) rs1553212090
NM_001111.5(ADAR):c.1740dup (p.Ser581fs)
NM_001111.5(ADAR):c.1793del (p.Glu598fs)
NM_001111.5(ADAR):c.1979_1980del (p.Val660fs)
NM_001111.5(ADAR):c.2077C>T (p.Gln693Ter) rs121912423
NM_001111.5(ADAR):c.2128_2131dup (p.Asn711fs) rs2101619771
NM_001111.5(ADAR):c.2245C>T (p.Gln749Ter)
NM_001111.5(ADAR):c.2309del (p.Pro770fs) rs2101589045
NM_001111.5(ADAR):c.2344C>T (p.Gln782Ter) rs2101588892
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
NM_001111.5(ADAR):c.2564dup (p.Thr856fs) rs1571065237
NM_001111.5(ADAR):c.2565_2568del (p.Asn857fs) rs1180888940
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs)
NM_001111.5(ADAR):c.2583del (p.Ser862fs)
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.271del (p.Arg91fs)
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser) rs1696974967
NM_001111.5(ADAR):c.2768T>C (p.Leu923Pro) rs28936680
NM_001111.5(ADAR):c.2854A>T (p.Lys952Ter) rs121912422
NM_001111.5(ADAR):c.2929_2939dup (p.Met981fs) rs2101576292
NM_001111.5(ADAR):c.296dup (p.Arg100fs)
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.3040G>T (p.Glu1014Ter)
NM_001111.5(ADAR):c.3125G>A (p.Arg1042His)
NM_001111.5(ADAR):c.3202+1G>A rs2101565765
NM_001111.5(ADAR):c.3232C>T (p.Arg1078Cys)
NM_001111.5(ADAR):c.3233G>T (p.Arg1078Leu)
NM_001111.5(ADAR):c.325C>T (p.Gln109Ter)
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.3346del (p.Arg1116fs) rs1557863734
NM_001111.5(ADAR):c.3363dup (p.Lys1122Ter) rs1571046959
NM_001111.5(ADAR):c.3402T>A (p.Tyr1134Ter)
NM_001111.5(ADAR):c.344del (p.Gly115fs) rs2101644365
NM_001111.5(ADAR):c.391C>T (p.Gln131Ter)
NM_001111.5(ADAR):c.439del (p.Leu147fs)
NM_001111.5(ADAR):c.520C>T (p.Arg174Ter)
NM_001111.5(ADAR):c.638del (p.Pro213fs) rs1571110353
NM_001111.5(ADAR):c.649dup (p.Ser217fs)
NM_001111.5(ADAR):c.763C>T (p.Gln255Ter) rs2101641985
NM_001111.5(ADAR):c.85C>T (p.Gln29Ter) rs2101645916
NM_001111.5(ADAR):c.929dup (p.Ser311fs) rs2101641171
NM_001111.5(ADAR):c.941_942del (p.Ser314fs) rs387906541
NM_001111.5(ADAR):c.982C>T (p.Arg328Ter) rs1322905273

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