ClinVar Miner

List of variants in gene ARX reported as pathogenic

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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479 0.00001
ARX, ARG2085HIS
NC_000023.11:g.25013829_25017090del
NG_008281.1:g.(?_4983)_(8028_10643)del
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs) rs869312662
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1058C>T (p.Pro353Leu) rs104894743
NM_139058.3(ARX):c.1096del (p.Asp366fs) rs797045289
NM_139058.3(ARX):c.1105G>T (p.Glu369Ter) rs104894746
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter) rs587783182
NM_139058.3(ARX):c.1111del (p.Arg371fs)
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1120-2A>G rs2147320644
NM_139058.3(ARX):c.1120-82_1469dup
NM_139058.3(ARX):c.1125G>A (p.Trp375Ter) rs2147320638
NM_139058.3(ARX):c.1129del (p.Gln377fs) rs1601946658
NM_139058.3(ARX):c.1141G>A (p.Ala381Thr) rs587783096
NM_139058.3(ARX):c.1141del (p.Ala381fs) rs1556049694
NM_139058.3(ARX):c.1150C>T (p.Arg384Cys)
NM_139058.3(ARX):c.1151G>T (p.Arg384Leu) rs1064797362
NM_139058.3(ARX):c.1151_1152del (p.Arg384fs) rs398124506
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) rs797045290
NM_139058.3(ARX):c.1180_1187del (p.His394fs)
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs) rs2048682798
NM_139058.3(ARX):c.1256_1260del (p.Phe419fs) rs2048682677
NM_139058.3(ARX):c.1273_1279del (p.Ala425fs)
NM_139058.3(ARX):c.1287_1339dup (p.Pro447fs) rs2048682045
NM_139058.3(ARX):c.1337dup (p.Pro447fs) rs797045291
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs) rs1601946502
NM_139058.3(ARX):c.1372del (p.Ala458fs) rs587783187
NM_139058.3(ARX):c.1374_1383del (p.Ala458_Pro459insTer) rs1569394026
NM_139058.3(ARX):c.1406_1415del (p.Ala469fs) rs2147320332
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) rs587783189
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del) rs1601946492
NM_139058.3(ARX):c.1430del (p.Ile477fs)
NM_139058.3(ARX):c.1443dup (p.Gly482fs) rs2147320305
NM_139058.3(ARX):c.1446_1448+1dup rs1601946481
NM_139058.3(ARX):c.1449-816_*460del
NM_139058.3(ARX):c.1449-82_1469dup rs1556046904
NM_139058.3(ARX):c.1449-8_1453del rs2147318823
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471del (p.Pro490_Leu491insTer) rs797045292
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.1472del (p.Leu491fs) rs2147318790
NM_139058.3(ARX):c.1497del (p.Leu500fs)
NM_139058.3(ARX):c.1520_1526dup (p.Glu509fs)
NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs) rs1556046720
NM_139058.3(ARX):c.1544del (p.Gly515fs) rs587783192
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) rs1601945655
NM_139058.3(ARX):c.1559del (p.Pro520fs)
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) rs1601945626
NM_139058.3(ARX):c.1593_1599dup (p.Ala534fs) rs1057517705
NM_139058.3(ARX):c.1604T>A (p.Leu535Gln) rs387906715
NM_139058.3(ARX):c.1612A>G (p.Lys538Glu) rs1064794843
NM_139058.3(ARX):c.172del (p.Ala58fs) rs587783193
NM_139058.3(ARX):c.193C>T (p.Gln65Ter)
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.26dup (p.Cys10fs) rs2147325489
NM_139058.3(ARX):c.2T>G (p.Met1Arg) rs2147325502
NM_139058.3(ARX):c.30C>A (p.Cys10Ter) rs794726959
NM_139058.3(ARX):c.34G>T (p.Glu12Ter) rs587783200
NM_139058.3(ARX):c.467G>A (p.Trp156Ter) rs2048711878
NM_139058.3(ARX):c.486_489del (p.Ser162fs)
NM_139058.3(ARX):c.502_503dup (p.Ser168fs) rs2147324110
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter) rs1601948603
NM_139058.3(ARX):c.52dup (p.Ser18fs) rs1601949558
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) rs797045303
NM_139058.3(ARX):c.590dup (p.Val198fs)
NM_139058.3(ARX):c.614_642del (p.Leu205fs) rs886043728
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.642_645del (p.Pro215fs) rs2147323943
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139058.3(ARX):c.81C>G (p.Tyr27Ter) rs398122854
NM_139058.3(ARX):c.922G>T (p.Glu308Ter) rs1556055108
NM_139058.3(ARX):c.947del (p.Gly316fs) rs2147323625
NM_139058.3(ARX):c.956C>A (p.Ser319Ter) rs2048708701
NM_139058.3(ARX):c.980_983del (p.Lys327fs) rs398124520
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) rs28936077
NM_139058.3(ARX):c.994C>G (p.Arg332Gly) rs2147323593
NM_139058.3(ARX):c.995G>A (p.Arg332His) rs111033612
NM_139058.3(ARX):c.995G>T (p.Arg332Leu) rs111033612
NM_139058.3(ARX):c.998C>A (p.Thr333Asn) rs104894745
NM_139058.3(ARX):c.998C>G (p.Thr333Ser) rs104894745

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