ClinVar Miner

List of variants in gene SETX studied for Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

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Gene type:
ClinVar version:
Total variants: 214
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HGVS dbSNP
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.5(SETX):c.[6106G>A];[7149_7151delTTGinsAT]
NM_015046.7(SETX):c.*1050A>C
NM_015046.7(SETX):c.*1052T>A rs12349210
NM_015046.7(SETX):c.*1148T>C
NM_015046.7(SETX):c.*1148T>G
NM_015046.7(SETX):c.*1224G>C rs10491906
NM_015046.7(SETX):c.*1233A>G
NM_015046.7(SETX):c.*1288T>C rs72765812
NM_015046.7(SETX):c.*1365G>T rs7875801
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C
NM_015046.7(SETX):c.*13A>T
NM_015046.7(SETX):c.*1420A>T
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1442T>G rs886063549
NM_015046.7(SETX):c.*1454C>G rs561712582
NM_015046.7(SETX):c.*1487A>G
NM_015046.7(SETX):c.*1494A>G
NM_015046.7(SETX):c.*1523A>G rs758582946
NM_015046.7(SETX):c.*1534G>A rs886063548
NM_015046.7(SETX):c.*1688A>G
NM_015046.7(SETX):c.*168C>T
NM_015046.7(SETX):c.*1700G>T rs75682594
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1722A>G
NM_015046.7(SETX):c.*1800C>T
NM_015046.7(SETX):c.*1803G>A
NM_015046.7(SETX):c.*1987T>C
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T
NM_015046.7(SETX):c.*2016G>A
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2190A>G
NM_015046.7(SETX):c.*2232T>C rs545456048
NM_015046.7(SETX):c.*2262A>G rs997784
NM_015046.7(SETX):c.*2287T>C
NM_015046.7(SETX):c.*2384T>A
NM_015046.7(SETX):c.*2506T>C rs73545065
NM_015046.7(SETX):c.*254C>T
NM_015046.7(SETX):c.*2610T>G rs530469492
NM_015046.7(SETX):c.*2639T>C rs886063543
NM_015046.7(SETX):c.*266A>G rs575959163
NM_015046.7(SETX):c.*2753G>A rs886063542
NM_015046.7(SETX):c.*319C>T rs1056912
NM_015046.7(SETX):c.*351G>T rs117409290
NM_015046.7(SETX):c.*475A>C
NM_015046.7(SETX):c.*491G>A
NM_015046.7(SETX):c.*548A>T rs139883935
NM_015046.7(SETX):c.*561A>C rs73661150
NM_015046.7(SETX):c.*562C>A rs11787894
NM_015046.7(SETX):c.*608G>C
NM_015046.7(SETX):c.*626C>T rs11795382
NM_015046.7(SETX):c.*666C>G rs886063551
NM_015046.7(SETX):c.*717T>C rs17148857
NM_015046.7(SETX):c.*849G>T rs74975459
NM_015046.7(SETX):c.*869C>T
NM_015046.7(SETX):c.*891T>C rs573743210
NM_015046.7(SETX):c.*905A>G rs58327306
NM_015046.7(SETX):c.*988G>A rs182693244
NM_015046.7(SETX):c.-107C>T rs190832998
NM_015046.7(SETX):c.-123C>A
NM_015046.7(SETX):c.-124C>T
NM_015046.7(SETX):c.-154G>C rs886063561
NM_015046.7(SETX):c.-70T>C
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln)
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala)
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946
NM_015046.7(SETX):c.156T>C (p.Asp52=)
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln)
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala)
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp)
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.2517C>T (p.His839=)
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser)
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala)
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556
NM_015046.7(SETX):c.2934C>T (p.Ser978=)
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu)
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637
NM_015046.7(SETX):c.340_342CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006
NM_015046.7(SETX):c.36T>C (p.Ala12=)
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554
NM_015046.7(SETX):c.397T>G (p.Cys133Gly)
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly)
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter)
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4989T>A (p.Ser1663=)
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr)
NM_015046.7(SETX):c.5271A>G (p.Glu1757=)
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885
NM_015046.7(SETX):c.5306_5307GA[1] (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn)
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr)
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871
NM_015046.7(SETX):c.5697G>A (p.Arg1899=)
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val)
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr)
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380
NM_015046.7(SETX):c.5949+5G>A rs374656811
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039
NM_015046.7(SETX):c.6038T>G (p.Val2013Gly) rs797045068
NM_015046.7(SETX):c.60C>T (p.Arg20=) rs553346505
NM_015046.7(SETX):c.6106+14G>A rs73661157
NM_015046.7(SETX):c.6106+8A>G
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn)
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306
NM_015046.7(SETX):c.6213_6214AG[1] (p.Glu2072fs) rs1564492117
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala)
NM_015046.7(SETX):c.6396+8G>C
NM_015046.7(SETX):c.6435C>T (p.Ile2145=)
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) rs1564482221
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354
NM_015046.7(SETX):c.6935+8T>C rs17148873
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098
NM_015046.7(SETX):c.7100+3G>A
NM_015046.7(SETX):c.7100+9T>C rs200088320
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589
NM_015046.7(SETX):c.719G>A (p.Gly240Asp) rs1589757407
NM_015046.7(SETX):c.7287+9C>A rs769170686
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp)
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) rs1564464665
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr)
NM_015046.7(SETX):c.737C>G (p.Thr246Ser)
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu)
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7750C>T (p.Leu2584=)
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr)
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val)
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927
NM_015046.7(SETX):c.7851G>A (p.Thr2617=)
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188
NM_015046.7(SETX):c.988C>T (p.His330Tyr)
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694

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