ClinVar Miner

List of variants in gene ARX studied for X-linked disease

Included ClinVar conditions (313):
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Total variants: 91
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HGVS dbSNP
ARX, 32-BP DEL, NT420
ARX, ARG2085HIS
ARX, EX1-2DEL
NM_139058.2(ARX):c.1120-82_1469dup
NM_139058.3(ARX):c.1028T>A (p.Leu343Gln) rs104894741
NM_139058.3(ARX):c.1033C>A (p.Arg345=) rs1601948273
NM_139058.3(ARX):c.1039T>C (p.Phe347Leu)
NM_139058.3(ARX):c.1041C>G (p.Phe347Leu) rs1060503040
NM_139058.3(ARX):c.1074-3T>C rs200700643
NM_139058.3(ARX):c.1096del (p.Asp366fs) rs797045289
NM_139058.3(ARX):c.1117C>T (p.Gln373Ter) rs104894740
NM_139058.3(ARX):c.1119+6C>T rs201300786
NM_139058.3(ARX):c.1121T>A (p.Val374Asp) rs587783183
NM_139058.3(ARX):c.1134C>A (p.Asn378Lys) rs587783184
NM_139058.3(ARX):c.1141del (p.Ala381fs) rs1556049694
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs) rs797045290
NM_139058.3(ARX):c.1170C>T (p.Gly390=) rs761632870
NM_139058.3(ARX):c.1187dup (p.Gly397fs) rs1328291159
NM_139058.3(ARX):c.1204G>A (p.Gly402Arg)
NM_139058.3(ARX):c.1226C>A (p.Pro409Gln) rs1601946603
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656
NM_139058.3(ARX):c.1300_1302GCC[10] (p.Ala438_Ala440dup) rs398124508
NM_139058.3(ARX):c.1300_1302GCC[6] (p.Ala440del) rs398124508
NM_139058.3(ARX):c.1300_1302GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.1327A>G (p.Ser443Gly)
NM_139058.3(ARX):c.1337dup (p.Pro447fs) rs797045291
NM_139058.3(ARX):c.1347C>T (p.Gly449=) rs75489697
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.1388G>A (p.Ser463Asn) rs763950769
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter) rs587783189
NM_139058.3(ARX):c.1448+9C>A rs759009252
NM_139058.3(ARX):c.1449-82_1469dup rs1556046904
NM_139058.3(ARX):c.1465del (p.Ala489fs) rs587783191
NM_139058.3(ARX):c.1471dup (p.Leu491fs) rs797045292
NM_139058.3(ARX):c.1488C>T (p.Thr496=) rs773666007
NM_139058.3(ARX):c.148T>C (p.Leu50=) rs370342380
NM_139058.3(ARX):c.1515A>G (p.Thr505=) rs398124509
NM_139058.3(ARX):c.1520_1560del (p.Ala507fs) rs1569393457
NM_139058.3(ARX):c.1521C>A (p.Ala507=) rs777179729
NM_139058.3(ARX):c.1555_1556insGG (p.Asp519fs) rs1601945655
NM_139058.3(ARX):c.1561G>A (p.Ala521Thr) rs746120093
NM_139058.3(ARX):c.1579A>T (p.Arg527Ter) rs1601945626
NM_139058.3(ARX):c.158C>G (p.Pro53Arg) rs1329228660
NM_139058.3(ARX):c.1599C>G (p.Ala533=) rs1057523196
NM_139058.3(ARX):c.1668C>T (p.Ser556=) rs1281833018
NM_139058.3(ARX):c.166A>G (p.Ser56Gly) rs144098296
NM_139058.3(ARX):c.1671G>A (p.Thr557=) rs190910161
NM_139058.3(ARX):c.187G>A (p.Ala63Thr) rs769996976
NM_139058.3(ARX):c.215G>C (p.Ser72Thr) rs1556056580
NM_139058.3(ARX):c.223T>G (p.Phe75Val) rs999545482
NM_139058.3(ARX):c.232G>T (p.Glu78Ter) rs267606666
NM_139058.3(ARX):c.264G>A (p.Leu88=) rs1556056513
NM_139058.3(ARX):c.474_475delinsAT (p.Leu159Phe) rs1569395505
NM_139058.3(ARX):c.509G>A (p.Ser170Asn) rs1556056051
NM_139058.3(ARX):c.525C>G (p.Tyr175Ter) rs1601948603
NM_139058.3(ARX):c.553C>T (p.Pro185Ser)
NM_139058.3(ARX):c.554C>A (p.Pro185Gln) rs925128416
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter) rs797045303
NM_139058.3(ARX):c.586G>C (p.Gly196Arg) rs1287749285
NM_139058.3(ARX):c.602C>A (p.Pro201Gln) rs1484238484
NM_139058.3(ARX):c.611G>A (p.Arg204His) rs755745002
NM_139058.3(ARX):c.611G>T (p.Arg204Leu) rs755745002
NM_139058.3(ARX):c.617del (p.Gly206fs) rs587783202
NM_139058.3(ARX):c.629G>T (p.Gly210Val) rs752323898
NM_139058.3(ARX):c.642C>A (p.Ala214=) rs997439358
NM_139058.3(ARX):c.662C>T (p.Thr221Ile)
NM_139058.3(ARX):c.663C>G (p.Thr221=) rs1006404746
NM_139058.3(ARX):c.663C>T (p.Thr221=) rs1006404746
NM_139058.3(ARX):c.678C>T (p.Asp226=) rs764730866
NM_139058.3(ARX):c.702_764del (p.Glu234_Asp254del) rs1556055511
NM_139058.3(ARX):c.708T>C (p.Asp236=) rs763458576
NM_139058.3(ARX):c.766G>C (p.Ala256Pro) rs769056463
NM_139058.3(ARX):c.769C>G (p.Arg257Gly) rs1475419182
NM_139058.3(ARX):c.771C>T (p.Arg257=) rs1601948418
NM_139058.3(ARX):c.790del (p.Arg264fs) rs886043552
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141
NM_139058.3(ARX):c.807C>T (p.Ala269=) rs587783205
NM_139058.3(ARX):c.832G>A (p.Ala278Thr)
NM_139058.3(ARX):c.855G>A (p.Glu285=) rs139301257
NM_139058.3(ARX):c.856G>A (p.Gly286Ser) rs28935479
NM_139058.3(ARX):c.87C>G (p.Ile29Met) rs148694386
NM_139058.3(ARX):c.904G>C (p.Ala302Pro) rs146224124
NM_139058.3(ARX):c.91A>C (p.Ser31Arg) rs878853107
NM_139058.3(ARX):c.921C>A (p.Gly307=) rs398124519
NM_139058.3(ARX):c.930C>T (p.Ser310=) rs1569395305
NM_139058.3(ARX):c.98T>C (p.Leu33Pro) rs28936077
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

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