ClinVar Miner

List of variants in gene ADAR, LOC126805874 studied for Symmetrical dyschromatosis of extremities; Aicardi-Goutieres syndrome 6

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Gene type:
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Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_001111.5(ADAR):c.2682G>A (p.Val894=) rs1127309 0.29372
NM_001111.5(ADAR):c.2553C>T (p.Cys851=) rs138927668 0.00304
NM_001111.5(ADAR):c.2668+20A>C rs115805812 0.00263
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_001111.5(ADAR):c.2762+6C>T rs371450928 0.00009
NM_001111.5(ADAR):c.2611G>A (p.Ala871Thr) rs769985255 0.00005
NM_001111.5(ADAR):c.2649C>T (p.Val883=) rs200989942 0.00004
NM_001111.5(ADAR):c.2652C>T (p.Val884=) rs369415788 0.00003
NM_001111.5(ADAR):c.2668+15G>A rs375311508 0.00003
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala) rs142456688 0.00003
NM_001111.5(ADAR):c.2762+10G>A rs879809934 0.00003
NM_001111.5(ADAR):c.2592C>T (p.Leu864=) rs138707431 0.00002
NM_001111.5(ADAR):c.2610C>T (p.Ala870=) rs777928382 0.00002
NM_001111.5(ADAR):c.2669-9C>T rs777184958 0.00002
NM_001111.5(ADAR):c.2762+7G>A rs201315688 0.00002
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.2565G>T (p.Leu855=) rs2101585659 0.00001
NM_001111.5(ADAR):c.2584T>G (p.Ser862Ala) rs776268194 0.00001
NM_001111.5(ADAR):c.2593G>A (p.Gly865Ser) rs775500671 0.00001
NM_001111.5(ADAR):c.2598C>G (p.Arg866=) rs749389266 0.00001
NM_001111.5(ADAR):c.2624A>G (p.Lys875Arg) rs751955732 0.00001
NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro) rs1261780777 0.00001
NM_001111.5(ADAR):c.2650G>A (p.Val884Ile) rs760529708 0.00001
NM_001111.5(ADAR):c.2653G>A (p.Val885Ile) rs772025392 0.00001
NM_001111.5(ADAR):c.2659T>C (p.Leu887=) rs759505132 0.00001
NM_001111.5(ADAR):c.2661G>A (p.Leu887=) rs773272107 0.00001
NM_001111.5(ADAR):c.2668+11C>T rs768855853 0.00001
NM_001111.5(ADAR):c.2669-12A>T rs1696978630 0.00001
NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr) rs1424630296 0.00001
NM_001111.5(ADAR):c.2730T>C (p.His910=) rs2526506024 0.00001
NM_001111.5(ADAR):c.2531T>G (p.Ile844Arg)
NM_001111.5(ADAR):c.2536A>G (p.Met846Val) rs2526514974
NM_001111.5(ADAR):c.2554T>G (p.Phe852Val) rs2101585739
NM_001111.5(ADAR):c.2563C>G (p.Leu855Val) rs2526514404
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs) rs1366641379
NM_001111.5(ADAR):c.2564dup (p.Thr856fs) rs1571065237
NM_001111.5(ADAR):c.2565G>A (p.Leu855=) rs2101585659
NM_001111.5(ADAR):c.2571_2572del (p.Asn857fs) rs2526514177
NM_001111.5(ADAR):c.2583del (p.Ser862fs) rs2526514076
NM_001111.5(ADAR):c.2592C>G (p.Leu864=) rs138707431
NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys) rs2526513755
NM_001111.5(ADAR):c.2597G>A (p.Arg866His) rs770937947
NM_001111.5(ADAR):c.2607G>T (p.Leu869=) rs2526513538
NM_001111.5(ADAR):c.2610C>A (p.Ala870=) rs777928382
NM_001111.5(ADAR):c.2612C>T (p.Ala871Val) rs748430309
NM_001111.5(ADAR):c.2617A>G (p.Ile873Val)
NM_001111.5(ADAR):c.2618T>C (p.Ile873Thr) rs2101585327
NM_001111.5(ADAR):c.2625A>G (p.Lys875=) rs2101585294
NM_001111.5(ADAR):c.2632T>G (p.Ser878Ala)
NM_001111.5(ADAR):c.2637G>A (p.Glu879=)
NM_001111.5(ADAR):c.2641A>G (p.Met881Val)
NM_001111.5(ADAR):c.2641_2642delinsTC (p.Met881Ser)
NM_001111.5(ADAR):c.2643G>C (p.Met881Ile) rs2526512769
NM_001111.5(ADAR):c.2646T>A (p.Gly882=) rs2526512705
NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg) rs2526512451
NM_001111.5(ADAR):c.2668+10G>A rs2101584941
NM_001111.5(ADAR):c.2668+13C>G
NM_001111.5(ADAR):c.2668+13C>T rs1327051029
NM_001111.5(ADAR):c.2668+18A>G rs2526512143
NM_001111.5(ADAR):c.2668+19C>T rs2101584874
NM_001111.5(ADAR):c.2668+20A>G rs115805812
NM_001111.5(ADAR):c.2668+4A>G rs2101584990
NM_001111.5(ADAR):c.2668+6T>G rs190881240
NM_001111.5(ADAR):c.2669-11C>T rs2526507350
NM_001111.5(ADAR):c.2669-19G>A rs1696979307
NM_001111.5(ADAR):c.2669-5C>T rs1696977862
NM_001111.5(ADAR):c.2669-8C>T rs755765435
NM_001111.5(ADAR):c.2670G>A (p.Gly890=) rs2526507067
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2676C>T (p.Arg892=) rs1696976959
NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys) rs1424630296
NM_001111.5(ADAR):c.2699G>T (p.Ser900Ile) rs1415969306
NM_001111.5(ADAR):c.2720A>G (p.Asn907Ser) rs1696974967
NM_001111.5(ADAR):c.2721T>C (p.Asn907=) rs2526506246
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly) rs2526506182
NM_001111.5(ADAR):c.2729A>G (p.His910Arg) rs1571063283
NM_001111.5(ADAR):c.2738T>C (p.Ile913Thr) rs1264595536
NM_001111.5(ADAR):c.2746C>G (p.Arg916Gly) rs2101582935
NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp) rs2101582935
NM_001111.5(ADAR):c.2747G>A (p.Arg916Gln) rs754785131
NM_001111.5(ADAR):c.2751A>G (p.Arg917=) rs2526505749
NM_001111.5(ADAR):c.2756T>A (p.Phe919Tyr)
NM_001111.5(ADAR):c.2758A>C (p.Ile920Leu) rs766337056
NM_001111.5(ADAR):c.2758A>G (p.Ile920Val) rs766337056
NM_001111.5(ADAR):c.2762+18T>C rs775859361
NM_001111.5(ADAR):c.2762+6C>G rs371450928
NM_001111.5(ADAR):c.2762+9G>A rs2526505356
NM_001111.5(ADAR):c.2763-27_2763-14del rs2526494951

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