ClinVar Miner

List of variants in gene ADAR studied for Inborn genetic diseases

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Total variants: 73
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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.214C>T (p.Arg72Trp) rs761657434 0.00010
NM_001111.5(ADAR):c.1766C>G (p.Thr589Arg) rs373667326 0.00006
NM_001111.5(ADAR):c.935A>T (p.Asp312Val) rs200192885 0.00005
NM_001111.5(ADAR):c.1079G>A (p.Arg360Gln) rs149091481 0.00004
NM_001111.5(ADAR):c.2080C>T (p.Pro694Ser) rs755535385 0.00004
NM_001111.5(ADAR):c.1316A>G (p.Asn439Ser) rs940393676 0.00003
NM_001111.5(ADAR):c.1372G>A (p.Asp458Asn) rs759763367 0.00003
NM_001111.5(ADAR):c.2378T>C (p.Ile793Thr) rs201233872 0.00003
NM_001111.5(ADAR):c.3289C>A (p.His1097Asn) rs200537032 0.00003
NM_001111.5(ADAR):c.625G>A (p.Gly209Arg) rs767095635 0.00003
NM_001111.5(ADAR):c.1765A>G (p.Thr589Ala) rs764506305 0.00002
NM_001111.5(ADAR):c.2360C>T (p.Ala787Val) rs367868255 0.00002
NM_001111.5(ADAR):c.3255_3256del (p.Asp1087fs) rs1349262891 0.00002
NM_001111.5(ADAR):c.547G>A (p.Gly183Ser) rs779939725 0.00002
NM_001111.5(ADAR):c.727G>A (p.Glu243Lys) rs1466550379 0.00002
NM_001111.5(ADAR):c.1207A>G (p.Met403Val) rs762748379 0.00001
NM_001111.5(ADAR):c.1300C>G (p.Pro434Ala) rs749677748 0.00001
NM_001111.5(ADAR):c.1315A>G (p.Asn439Asp) rs1040011158 0.00001
NM_001111.5(ADAR):c.1421G>A (p.Arg474Gln) rs759679549 0.00001
NM_001111.5(ADAR):c.1757A>G (p.His586Arg) rs1445947516 0.00001
NM_001111.5(ADAR):c.1801A>G (p.Thr601Ala) rs556625861 0.00001
NM_001111.5(ADAR):c.1910A>G (p.Lys637Arg) rs886045341 0.00001
NM_001111.5(ADAR):c.1960G>A (p.Ala654Thr) rs1203975739 0.00001
NM_001111.5(ADAR):c.2242G>A (p.Asp748Asn) rs754538298 0.00001
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs) rs779357448 0.00001
NM_001111.5(ADAR):c.2489C>G (p.Pro830Arg) rs1232214809 0.00001
NM_001111.5(ADAR):c.2830A>G (p.Lys944Glu) rs373564780 0.00001
NM_001111.5(ADAR):c.2960G>A (p.Arg987His) rs760200045 0.00001
NM_001111.5(ADAR):c.3040G>C (p.Glu1014Gln) rs965662260 0.00001
NM_001111.5(ADAR):c.3076C>T (p.Arg1026Trp) rs374300359 0.00001
NM_001111.5(ADAR):c.3449G>A (p.Arg1150Gln) rs779950072 0.00001
NM_001111.5(ADAR):c.3463C>T (p.Arg1155Trp) rs1044845711 0.00001
NM_001111.5(ADAR):c.415C>G (p.Gln139Glu) rs1463382499 0.00001
NM_001111.5(ADAR):c.487G>A (p.Gly163Arg) rs762094056 0.00001
NM_001111.5(ADAR):c.650G>A (p.Ser217Asn) rs199906332 0.00001
NM_001111.5(ADAR):c.1006G>A (p.Asp336Asn) rs763575197
NM_001111.5(ADAR):c.1024G>A (p.Asp342Asn) rs750785381
NM_001111.5(ADAR):c.1112G>A (p.Ser371Asn) rs2526653365
NM_001111.5(ADAR):c.115T>G (p.Phe39Val) rs1697956017
NM_001111.5(ADAR):c.1412G>T (p.Gly471Val) rs1697852164
NM_001111.5(ADAR):c.1429A>G (p.Met477Val)
NM_001111.5(ADAR):c.1570A>G (p.Ile524Val) rs1436969106
NM_001111.5(ADAR):c.159A>C (p.Glu53Asp)
NM_001111.5(ADAR):c.1615G>A (p.Val539Ile) rs2526614849
NM_001111.5(ADAR):c.1700C>A (p.Thr567Lys) rs1205545887
NM_001111.5(ADAR):c.1733G>A (p.Ser578Asn) rs2526612749
NM_001111.5(ADAR):c.1781A>G (p.Glu594Gly) rs2526611837
NM_001111.5(ADAR):c.1789G>T (p.Ala597Ser)
NM_001111.5(ADAR):c.1891G>A (p.Glu631Lys) rs756241513
NM_001111.5(ADAR):c.1929A>T (p.Glu643Asp)
NM_001111.5(ADAR):c.1958G>A (p.Gly653Glu) rs2526596589
NM_001111.5(ADAR):c.200C>G (p.Ser67Cys) rs1367119670
NM_001111.5(ADAR):c.2042A>G (p.His681Arg) rs762924757
NM_001111.5(ADAR):c.2091G>A (p.Met697Ile)
NM_001111.5(ADAR):c.2251G>A (p.Gly751Arg) rs1306616226
NM_001111.5(ADAR):c.227C>T (p.Pro76Leu) rs1181329844
NM_001111.5(ADAR):c.2369G>A (p.Arg790His) rs148307745
NM_001111.5(ADAR):c.2785A>C (p.Lys929Gln) rs1696926150
NM_001111.5(ADAR):c.2807A>G (p.Lys936Arg)
NM_001111.5(ADAR):c.2830A>C (p.Lys944Gln) rs373564780
NM_001111.5(ADAR):c.2863G>C (p.Val955Leu)
NM_001111.5(ADAR):c.2885+2T>C rs1696919284
NM_001111.5(ADAR):c.3197C>T (p.Thr1066Ile) rs2526463758
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter) rs769148365
NM_001111.5(ADAR):c.328C>T (p.His110Tyr) rs2526668015
NM_001111.5(ADAR):c.3629A>G (p.Asn1210Ser) rs2526442993
NM_001111.5(ADAR):c.382T>G (p.Ser128Ala)
NM_001111.5(ADAR):c.396A>T (p.Glu132Asp)
NM_001111.5(ADAR):c.494T>C (p.Leu165Pro) rs1697924081
NM_001111.5(ADAR):c.569G>T (p.Gly190Val) rs2526663529
NM_001111.5(ADAR):c.839A>G (p.Asp280Gly)
NM_001111.5(ADAR):c.98G>A (p.Gly33Glu) rs1571113228

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