ClinVar Miner

List of variants in gene ADAR, LOC126805874 studied for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 85
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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 0.00266
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.2598C>G (p.Arg866=) rs749389266 0.00004
NM_001111.5(ADAR):c.2649C>T (p.Val883=) rs200989942 0.00004
NM_001111.5(ADAR):c.2762+10G>A rs879809934 0.00004
NM_001111.5(ADAR):c.2753G>C (p.Gly918Ala) rs142456688 0.00003
NM_001111.5(ADAR):c.2584T>G (p.Ser862Ala) rs776268194 0.00002
NM_001111.5(ADAR):c.2592C>T (p.Leu864=) rs138707431 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.2593G>A (p.Gly865Ser) rs775500671 0.00001
NM_001111.5(ADAR):c.2610C>T (p.Ala870=) rs777928382 0.00001
NM_001111.5(ADAR):c.2632T>C (p.Ser878Pro) rs1261780777 0.00001
NM_001111.5(ADAR):c.2659T>C (p.Leu887=) rs759505132 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.2669-9C>T rs777184958 0.00001
NM_001111.5(ADAR):c.2693C>A (p.Ser898Tyr) rs1424630296 0.00001
NM_001111.5(ADAR):c.2762+18T>C rs775859361 0.00001
NM_001111.5(ADAR):c.2536A>G (p.Met846Val)
NM_001111.5(ADAR):c.2554T>G (p.Phe852Val) rs2101585739
NM_001111.5(ADAR):c.2560A>T (p.Thr854Ser) rs1697011861
NM_001111.5(ADAR):c.2563C>G (p.Leu855Val)
NM_001111.5(ADAR):c.2563_2564del (p.Leu855fs)
NM_001111.5(ADAR):c.2564dup (p.Thr856fs) rs1571065237
NM_001111.5(ADAR):c.2565G>A (p.Leu855=)
NM_001111.5(ADAR):c.2565G>T (p.Leu855=) rs2101585659
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.2592C>G (p.Leu864=) rs138707431
NM_001111.5(ADAR):c.2596C>T (p.Arg866Cys)
NM_001111.5(ADAR):c.2597G>A (p.Arg866His) rs770937947
NM_001111.5(ADAR):c.2607G>T (p.Leu869=)
NM_001111.5(ADAR):c.2608G>A (p.Ala870Thr) rs398122893
NM_001111.5(ADAR):c.2610C>A (p.Ala870=)
NM_001111.5(ADAR):c.2612C>T (p.Ala871Val) rs748430309
NM_001111.5(ADAR):c.2615T>C (p.Ile872Thr) rs398122897
NM_001111.5(ADAR):c.2618T>C (p.Ile873Thr) rs2101585327
NM_001111.5(ADAR):c.2624A>G (p.Lys875Arg)
NM_001111.5(ADAR):c.2625A>G (p.Lys875=) rs2101585294
NM_001111.5(ADAR):c.2643G>C (p.Met881Ile)
NM_001111.5(ADAR):c.2646T>A (p.Gly882=)
NM_001111.5(ADAR):c.2650G>A (p.Val884Ile)
NM_001111.5(ADAR):c.2652C>T (p.Val884=)
NM_001111.5(ADAR):c.2653G>A (p.Val885Ile)
NM_001111.5(ADAR):c.2661G>A (p.Leu887=)
NM_001111.5(ADAR):c.2662G>C (p.Gly888Arg)
NM_001111.5(ADAR):c.2668+10G>A rs2101584941
NM_001111.5(ADAR):c.2668+13C>T
NM_001111.5(ADAR):c.2668+15G>A
NM_001111.5(ADAR):c.2668+18A>G
NM_001111.5(ADAR):c.2668+19C>T rs2101584874
NM_001111.5(ADAR):c.2668+20A>G
NM_001111.5(ADAR):c.2668+4A>G rs2101584990
NM_001111.5(ADAR):c.2668+6T>G
NM_001111.5(ADAR):c.2669-11C>T
NM_001111.5(ADAR):c.2669-19G>A
NM_001111.5(ADAR):c.2669-5C>T
NM_001111.5(ADAR):c.2669-8C>T rs755765435
NM_001111.5(ADAR):c.2670G>A (p.Gly890=)
NM_001111.5(ADAR):c.2675G>A (p.Arg892His) rs398122892
NM_001111.5(ADAR):c.2676C>T (p.Arg892=)
NM_001111.5(ADAR):c.2693C>G (p.Ser898Cys)
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=)
NM_001111.5(ADAR):c.2722G>T (p.Asp908Tyr) rs1557869750
NM_001111.5(ADAR):c.2723A>G (p.Asp908Gly)
NM_001111.5(ADAR):c.2730T>C (p.His910=)
NM_001111.5(ADAR):c.2738T>C (p.Ile913Thr)
NM_001111.5(ADAR):c.2746C>G (p.Arg916Gly) rs2101582935
NM_001111.5(ADAR):c.2746C>T (p.Arg916Trp)
NM_001111.5(ADAR):c.2747G>A (p.Arg916Gln) rs754785131
NM_001111.5(ADAR):c.2751A>G (p.Arg917=)
NM_001111.5(ADAR):c.2758A>C (p.Ile920Leu)
NM_001111.5(ADAR):c.2758A>G (p.Ile920Val)
NM_001111.5(ADAR):c.2762+6C>G rs371450928
NM_001111.5(ADAR):c.2762+9G>A
NM_001111.5(ADAR):c.2763-27_2763-14del

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