ClinVar Miner

List of variants reported as uncertain significance for ADAR-related type 1 interferonopathy by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.1229A>G (p.Glu410Gly) rs145652884 0.00022
NM_001111.5(ADAR):c.1625A>G (p.Asn542Ser) rs200242235 0.00016
NM_001111.5(ADAR):c.656G>C (p.Gly219Ala) rs139471471 0.00010
NM_001111.5(ADAR):c.1741T>C (p.Ser581Pro) rs142884797 0.00006
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326 0.00006
NM_001111.5(ADAR):c.2275G>A (p.Val759Ile) rs145849344 0.00006
NM_001111.5(ADAR):c.983G>A (p.Arg328Gln) rs371476324 0.00006
NM_001111.5(ADAR):c.1400G>A (p.Arg467His) rs192121167 0.00005
NM_001111.5(ADAR):c.3581C>T (p.Thr1194Met) rs367899281 0.00005
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala) rs556625861 0.00004
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser) rs940393676 0.00003
NM_001111.5(ADAR):c.1543G>T (p.Ala515Ser) rs200830156 0.00003
NM_001111.5(ADAR):c.164C>T (p.Pro55Leu) rs187076847 0.00003
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val) rs367868255 0.00002
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu) rs373564780 0.00002
NM_001111.5(ADAR):c.500C>T (p.Thr167Ile) rs747418036 0.00002
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725 0.00002
NM_001111.5(ADAR):c.1049C>T (p.Pro350Leu) rs763695856 0.00001
NM_001111.5(ADAR):c.1062T>G (p.His354Gln) rs767103774 0.00001
NM_001111.5(ADAR):c.1097A>G (p.Lys366Arg) rs770795921 0.00001
NM_001111.5(ADAR):c.1189T>A (p.Ser397Thr) rs1190740301 0.00001
NM_001111.5(ADAR):c.1207A>G (p.Met403Val) rs762748379 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn) rs754538298 0.00001
NM_001111.5(ADAR):c.2548C>T (p.Arg850Trp) rs762568334 0.00001
NM_001111.5(ADAR):c.2549G>A (p.Arg850Gln) rs750048114 0.00001
NM_001111.5(ADAR):c.2920A>G (p.Lys974Glu) rs886045339 0.00001
NM_001111.5(ADAR):c.2960G>A (p.Arg987His) rs760200045 0.00001
NM_001111.5(ADAR):c.3095G>A (p.Arg1032His) rs773129591 0.00001
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) rs1463382499 0.00001
NM_001111.5(ADAR):c.434A>G (p.Lys145Arg) rs763767761 0.00001
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1103A>T (p.Asn368Ile) rs1553213121
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn) rs759763367
NM_001111.5(ADAR):c.1402G>T (p.Ala468Ser) rs761708272
NM_001111.5(ADAR):c.1780G>A (p.Glu594Lys) rs1203572202
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys) rs756241513
NM_001111.5(ADAR):c.1A>G (p.Met1Val) rs1698314927
NM_001111.5(ADAR):c.2224G>A (p.Ala742Thr) rs2101619298
NM_001111.5(ADAR):c.224T>G (p.Phe75Cys) rs886045345
NM_001111.5(ADAR):c.3301G>A (p.Val1101Ile)
NM_001111.5(ADAR):c.3499A>C (p.Lys1167Gln) rs1571045177
NM_001111.5(ADAR):c.841A>G (p.Ser281Gly) rs1557887436

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