ClinVar Miner

List of variants in gene ADAR reported as likely pathogenic

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Total variants: 35
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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.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp) rs1044845711 0.00001
NM_001111.5(ADAR):c.1078C>T (p.Arg360Ter)
NM_001111.5(ADAR):c.1267C>T (p.Gln423Ter) rs1697861124
NM_001111.5(ADAR):c.1483A>T (p.Lys495Ter) rs2526646459
NM_001111.5(ADAR):c.1601+1G>T rs2526644607
NM_001111.5(ADAR):c.1602-2A>G rs2526615034
NM_001111.5(ADAR):c.1714dup (p.Glu572fs) rs1571095986
NM_001111.5(ADAR):c.1786-1G>C rs2526606588
NM_001111.5(ADAR):c.2763-1G>A rs2526494665
NM_001111.5(ADAR):c.2763-2A>G rs2101579172
NM_001111.5(ADAR):c.2885+1G>A rs112563989
NM_001111.5(ADAR):c.2886-1del rs1696896431
NM_001111.5(ADAR):c.2953_2954del (p.Glu985fs)
NM_001111.5(ADAR):c.2997G>T (p.Lys999Asn) rs398122896
NM_001111.5(ADAR):c.3002_3003delinsTT (p.Arg1001Leu) rs1064795689
NM_001111.5(ADAR):c.3019+1G>A
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3019G>C (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.3020-3C>G rs1085307951
NM_001111.5(ADAR):c.3102G>A (p.Met1034Ile) rs2526465386
NM_001111.5(ADAR):c.3124C>T (p.Arg1042Cys) rs779004315
NM_001111.5(ADAR):c.3143T>C (p.Leu1048Pro) rs1571050825
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.3364A>C (p.Lys1122Gln) rs2526449847
NM_001111.5(ADAR):c.3443+2T>A rs1571046516
NM_001111.5(ADAR):c.3577G>A (p.Glu1193Lys) rs1064796761
NM_001111.5(ADAR):c.665_666insGGAGCCAAGGAGCCCCAAA (p.Asn222fs) rs1571110158
NM_001111.5(ADAR):c.758G>A (p.Trp253Ter) rs2101642015

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