ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 433
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HGVS dbSNP gnomAD frequency
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_015046.7(SETX):c.6655-24G>A rs11243704 0.44367
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_015046.7(SETX):c.5374+16C>T rs2296872 0.24325
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_015046.7(SETX):c.7100+27A>G rs2296865 0.16223
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_015046.7(SETX):c.6546+32T>A rs2296873 0.07069
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_001195248.2(APTX):c.484-12_484-11insG rs377129152 0.06469
NM_015046.7(SETX):c.498+30T>C rs11790312 0.05653
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_015046.7(SETX):c.498+20G>A rs73659013 0.02106
NM_015046.7(SETX):c.6936-27T>G rs2296866 0.02083
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_015046.7(SETX):c.1968A>G (p.Val656=) rs113997459 0.00654
NM_015046.7(SETX):c.1957C>A (p.Gln653Lys) rs116333061 0.00653
NM_015046.7(SETX):c.7905C>T (p.Ala2635=) rs112201716 0.00633
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_001195248.2(APTX):c.*806G>A rs113556331 0.00570
NM_015046.7(SETX):c.*319C>T rs1056912 0.00570
NM_015046.7(SETX):c.5275-43T>C rs144258500 0.00547
NM_015046.7(SETX):c.-107C>T rs190832998 0.00516
NM_015046.7(SETX):c.1807A>G (p.Asn603Asp) rs116205032 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
NM_015046.7(SETX):c.2672T>C (p.Val891Ala) rs148181729 0.00470
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
NM_015046.7(SETX):c.7287+207C>T rs45490698 0.00451
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu) rs35473230 0.00364
NM_015046.7(SETX):c.6108A>G (p.Gly2036=) rs35815657 0.00358
NM_015046.7(SETX):c.472T>G (p.Leu158Val) rs145438764 0.00347
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu) rs34000644 0.00304
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu) rs36024203 0.00293
NM_015046.7(SETX):c.2113A>C (p.Ile705Leu) rs34781846 0.00272
NM_015046.7(SETX):c.*254C>T rs11545230 0.00252
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015046.7(SETX):c.*168C>T rs115351494 0.00245
NM_015046.7(SETX):c.2401A>G (p.Lys801Glu) rs149718424 0.00229
NM_015046.7(SETX):c.2981A>G (p.Asp994Gly) rs149546633 0.00216
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu) rs113831637 0.00173
NM_015046.7(SETX):c.*2506T>C rs73545065 0.00164
NM_015046.7(SETX):c.*905A>G rs58327306 0.00164
NM_015046.7(SETX):c.5781+10G>A rs537414669 0.00159
NM_015046.7(SETX):c.*1800C>T rs147200829 0.00144
NM_015046.7(SETX):c.7101A>G (p.Gly2367=) rs79233884 0.00141
NM_015046.7(SETX):c.-70T>C rs72765839 0.00131
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_015046.7(SETX):c.3229G>A (p.Asp1077Asn) rs145097270 0.00105
NM_015046.7(SETX):c.192A>G (p.Leu64=) rs117326462 0.00078
NM_015046.7(SETX):c.5949+5G>A rs374656811 0.00078
NM_015046.7(SETX):c.717A>G (p.Leu239=) rs147125311 0.00076
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677 0.00058
NM_001195248.2(APTX):c.134-12A>C rs113391831 0.00057
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_015046.7(SETX):c.4197A>G (p.Thr1399=) rs148078248 0.00052
NM_015046.7(SETX):c.5473A>G (p.Thr1825Ala) rs151046729 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_015046.7(SETX):c.*1803G>A rs556145432 0.00046
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_015046.7(SETX):c.*1454C>G rs561712582 0.00041
NM_015046.7(SETX):c.3826C>G (p.Gln1276Glu) rs148604312 0.00039
NM_015046.7(SETX):c.654G>C (p.Lys218Asn) rs117861188 0.00039
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu) rs143982186 0.00037
NM_015046.7(SETX):c.5283A>G (p.Gln1761=) rs139063885 0.00036
NM_015046.7(SETX):c.4612C>T (p.Arg1538Trp) rs147018359 0.00035
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_001195248.2(APTX):c.*834C>G rs770908697 0.00032
NM_001195248.2(APTX):c.*858C>G rs772290850 0.00031
NM_015046.7(SETX):c.2955G>A (p.Ser985=) rs201251074 0.00031
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro) rs140147684 0.00030
NM_015046.7(SETX):c.*1688A>G rs773351268 0.00027
NM_015046.7(SETX):c.*891T>C rs573743210 0.00025
NM_015046.7(SETX):c.5346C>T (p.Ala1782=) rs115071007 0.00024
NM_015046.7(SETX):c.*2384T>A rs570456500 0.00022
NM_015046.7(SETX):c.*988G>A rs182693244 0.00021
NM_015046.7(SETX):c.1391C>T (p.Ser464Leu) rs200614765 0.00021
NM_015046.7(SETX):c.*2065dup rs886063546 0.00019
NM_015046.7(SETX):c.7787C>T (p.Ala2596Val) rs200507089 0.00019
NM_015046.7(SETX):c.7991T>C (p.Leu2664Pro) rs143798689 0.00019
NM_015046.7(SETX):c.-123C>A rs184570956 0.00017
NM_015046.7(SETX):c.1066G>A (p.Val356Ile) rs143270460 0.00016
NM_015046.7(SETX):c.7195A>G (p.Ile2399Val) rs150489999 0.00016
NM_015046.7(SETX):c.7100+9T>C rs200088320 0.00015
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu) rs11243731 0.00013
NM_015046.7(SETX):c.7738G>A (p.Val2580Ile) rs370366576 0.00013
NM_015046.7(SETX):c.*2016G>A rs752950104 0.00012
NM_015046.7(SETX):c.4511A>G (p.Glu1504Gly) rs781275166 0.00012
NM_015046.7(SETX):c.3090T>C (p.Leu1030=) rs368677513 0.00011
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_015046.7(SETX):c.4020G>T (p.Lys1340Asn) rs368323660 0.00010
NM_015046.7(SETX):c.431A>G (p.Asn144Ser) rs767453182 0.00010
NM_015046.7(SETX):c.4631T>C (p.Leu1544Ser) rs754357821 0.00009
NM_015046.7(SETX):c.4677A>G (p.Lys1559=) rs200123129 0.00009
NM_015046.7(SETX):c.4866G>A (p.Pro1622=) rs779472573 0.00009
NM_015046.7(SETX):c.1221A>G (p.Thr407=) rs377618570 0.00008
NM_015046.7(SETX):c.1374T>G (p.Phe458Leu) rs201441886 0.00008
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu) rs117229601 0.00008
NM_015046.7(SETX):c.5271A>G (p.Glu1757=) rs200499115 0.00008
NM_015046.7(SETX):c.7979A>G (p.Asp2660Gly) rs567672087 0.00008
NM_015046.7(SETX):c.2469C>G (p.Phe823Leu) rs141163823 0.00007
NM_015046.7(SETX):c.3023C>G (p.Thr1008Ser) rs372021275 0.00007
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser) rs150421712 0.00007
NM_015046.7(SETX):c.5536C>T (p.Arg1846Cys) rs551406712 0.00007
NM_001195248.2(APTX):c.*605G>A rs545625482 0.00006
NM_001195248.2(APTX):c.80T>C (p.Ile27Thr) rs117041645 0.00006
NM_015046.7(SETX):c.*1523A>G rs758582946 0.00006
NM_015046.7(SETX):c.*1534G>A rs886063548 0.00006
NM_015046.7(SETX):c.*2610T>G rs530469492 0.00006
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00006
NM_015046.7(SETX):c.234G>A (p.Lys78=) rs146206138 0.00006
NM_015046.7(SETX):c.2717C>T (p.Ser906Leu) rs148375192 0.00006
NM_015046.7(SETX):c.3207T>A (p.Thr1069=) rs200585636 0.00006
NM_015046.7(SETX):c.3210T>C (p.Leu1070=) rs145014082 0.00006
NM_015046.7(SETX):c.5537G>A (p.Arg1846His) rs373571937 0.00006
NM_015046.7(SETX):c.5712A>G (p.Arg1904=) rs750372437 0.00006
NM_015046.7(SETX):c.5853C>G (p.His1951Gln) rs928020122 0.00006
NM_015046.7(SETX):c.6161G>A (p.Ser2054Asn) rs200778360 0.00006
NM_015046.7(SETX):c.658A>C (p.Lys220Gln) rs761180215 0.00006
NM_015046.7(SETX):c.6675C>T (p.Tyr2225=) rs200382898 0.00006
NM_015046.7(SETX):c.768G>T (p.Leu256=) rs759468738 0.00006
NM_015046.7(SETX):c.7874C>T (p.Pro2625Leu) rs553413088 0.00006
NM_015046.7(SETX):c.1015A>C (p.Lys339Gln) rs768437607 0.00005
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_015046.7(SETX):c.7406T>C (p.Leu2469Pro) rs151304085 0.00005
NM_001195248.2(APTX):c.740G>A (p.Arg247Gln) rs142133683 0.00004
NM_015046.7(SETX):c.1416A>T (p.Lys472Asn) rs886063558 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_015046.7(SETX):c.146A>G (p.Lys49Arg) rs142551293 0.00004
NM_015046.7(SETX):c.1626C>T (p.Leu542=) rs746541015 0.00004
NM_015046.7(SETX):c.2176T>C (p.Cys726Arg) rs377734748 0.00004
NM_015046.7(SETX):c.2490A>C (p.Gly830=) rs751429987 0.00004
NM_015046.7(SETX):c.2935G>A (p.Asp979Asn) rs138287942 0.00004
NM_015046.7(SETX):c.3115A>G (p.Ile1039Val) rs372529790 0.00004
NM_015046.7(SETX):c.3968G>A (p.Arg1323Gln) rs369542231 0.00004
NM_015046.7(SETX):c.4979A>G (p.His1660Arg) rs371894414 0.00004
NM_015046.7(SETX):c.540A>G (p.Lys180=) rs757470639 0.00004
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs) rs776470487 0.00004
NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr) rs140676924 0.00004
NM_015046.7(SETX):c.6435C>T (p.Ile2145=) rs374110190 0.00004
NM_015046.7(SETX):c.6910G>T (p.Asp2304Tyr) rs774458684 0.00004
NM_015046.7(SETX):c.7741C>T (p.His2581Tyr) rs530686162 0.00004
NM_015046.7(SETX):c.9A>G (p.Thr3=) rs139681694 0.00004
NM_001195248.2(APTX):c.375A>T (p.Glu125Asp) rs886063858 0.00003
NM_015046.7(SETX):c.2390A>G (p.Lys797Arg) rs1273786747 0.00003
NM_015046.7(SETX):c.267A>G (p.Ile89Met) rs767232097 0.00003
NM_015046.7(SETX):c.2730A>C (p.Ser910=) rs764898504 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.3117A>G (p.Ile1039Met) rs886063555 0.00003
NM_015046.7(SETX):c.3298A>G (p.Asn1100Asp) rs1230355404 0.00003
NM_015046.7(SETX):c.4291C>G (p.Pro1431Ala) rs371541705 0.00003
NM_015046.7(SETX):c.4417C>T (p.Arg1473Cys) rs781185115 0.00003
NM_015046.7(SETX):c.5781+9T>C rs772671321 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_015046.7(SETX):c.6085A>G (p.Lys2029Glu) rs746525639 0.00003
NM_015046.7(SETX):c.6396+8G>C rs752365500 0.00003
NM_015046.7(SETX):c.6829T>C (p.Leu2277=) rs189444354 0.00003
NM_015046.7(SETX):c.710A>G (p.Tyr237Cys) rs138538492 0.00003
NM_015046.7(SETX):c.7818C>T (p.Gly2606=) rs764270386 0.00003
NM_015046.7(SETX):c.7851G>A (p.Thr2617=) rs747616517 0.00003
NM_015046.7(SETX):c.806C>T (p.Ser269Leu) rs757988188 0.00003
NM_015046.7(SETX):c.*1442T>G rs886063549 0.00002
NM_015046.7(SETX):c.*491G>A rs1285017063 0.00002
NM_015046.7(SETX):c.*666C>G rs886063551 0.00002
NM_015046.7(SETX):c.1467C>T (p.Val489=) rs142093830 0.00002
NM_015046.7(SETX):c.1492A>G (p.Thr498Ala) rs779544809 0.00002
NM_015046.7(SETX):c.1858A>G (p.Asn620Asp) rs777081940 0.00002
NM_015046.7(SETX):c.2439A>C (p.Glu813Asp) rs190841601 0.00002
NM_015046.7(SETX):c.2842C>A (p.Pro948Thr) rs778882347 0.00002
NM_015046.7(SETX):c.3200C>T (p.Thr1067Ile) rs374091487 0.00002
NM_015046.7(SETX):c.343C>G (p.Leu115Val) rs538372427 0.00002
NM_015046.7(SETX):c.3605A>G (p.Asp1202Gly) rs138167195 0.00002
NM_015046.7(SETX):c.4113A>G (p.Thr1371=) rs750697305 0.00002
NM_015046.7(SETX):c.4180T>C (p.Ser1394Pro) rs780078856 0.00002
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala) rs764920626 0.00002
NM_015046.7(SETX):c.4853C>G (p.Ser1618Ter) rs553512431 0.00002
NM_015046.7(SETX):c.5278G>A (p.Ala1760Thr) rs764316153 0.00002
NM_015046.7(SETX):c.5403A>C (p.Lys1801Asn) rs762071010 0.00002
NM_015046.7(SETX):c.5509C>T (p.His1837Tyr) rs749395151 0.00002
NM_015046.7(SETX):c.5535C>T (p.Arg1845=) rs200433173 0.00002
NM_015046.7(SETX):c.5552G>A (p.Arg1851His) rs137978070 0.00002
NM_015046.7(SETX):c.5603C>T (p.Pro1868Leu) rs370368422 0.00002
NM_015046.7(SETX):c.6356T>C (p.Val2119Ala) rs781741533 0.00002
NM_015046.7(SETX):c.7089C>T (p.Phe2363=) rs141497098 0.00002
NM_015046.7(SETX):c.7287+9C>A rs769170686 0.00002
NM_015046.7(SETX):c.7330C>T (p.Arg2444Cys) rs372535542 0.00002
NM_015046.7(SETX):c.7967A>G (p.Asn2656Ser) rs745394467 0.00002
NM_015046.7(SETX):c.*13A>T rs1204954131 0.00001
NM_015046.7(SETX):c.*1420A>T rs751833631 0.00001
NM_015046.7(SETX):c.*1722A>G rs963398615 0.00001
NM_015046.7(SETX):c.*2232T>C rs545456048 0.00001
NM_015046.7(SETX):c.*2287T>C rs1842428001 0.00001
NM_015046.7(SETX):c.*869C>T rs1354270999 0.00001
NM_015046.7(SETX):c.1086A>C (p.Glu362Asp) rs768198537 0.00001
NM_015046.7(SETX):c.1204C>T (p.Arg402Cys) rs772044862 0.00001
NM_015046.7(SETX):c.1505G>A (p.Arg502Gln) rs750044197 0.00001
NM_015046.7(SETX):c.1561C>T (p.Leu521=) rs148638979 0.00001
NM_015046.7(SETX):c.1989_1994del (p.Ile664_Glu665del) rs773195802 0.00001
NM_015046.7(SETX):c.2003A>G (p.Asn668Ser) rs780898043 0.00001
NM_015046.7(SETX):c.202C>T (p.Arg68Cys) rs771481623 0.00001
NM_015046.7(SETX):c.2125A>G (p.Thr709Ala) rs750530263 0.00001
NM_015046.7(SETX):c.2245G>A (p.Asp749Asn) rs922821119 0.00001
NM_015046.7(SETX):c.2254A>G (p.Thr752Ala) rs745938575 0.00001
NM_015046.7(SETX):c.2278A>G (p.Thr760Ala) rs373647065 0.00001
NM_015046.7(SETX):c.2295C>A (p.Phe765Leu) rs771954896 0.00001
NM_015046.7(SETX):c.2779A>G (p.Met927Val) rs886063556 0.00001
NM_015046.7(SETX):c.2788A>G (p.Ser930Gly) rs770694223 0.00001
NM_015046.7(SETX):c.2934C>T (p.Ser978=) rs144154512 0.00001
NM_015046.7(SETX):c.3028C>T (p.Arg1010Cys) rs766799023 0.00001
NM_015046.7(SETX):c.3040A>G (p.Ile1014Val) rs761243379 0.00001
NM_015046.7(SETX):c.3047T>C (p.Ile1016Thr) rs200856903 0.00001
NM_015046.7(SETX):c.3221A>G (p.Glu1074Gly) rs752140967 0.00001
NM_015046.7(SETX):c.3332T>G (p.Leu1111Trp) rs1564541841 0.00001
NM_015046.7(SETX):c.3385G>A (p.Glu1129Lys) rs778505279 0.00001
NM_015046.7(SETX):c.3410G>A (p.Gly1137Asp) rs62576475 0.00001
NM_015046.7(SETX):c.36T>C (p.Ala12=) rs1198947358 0.00001
NM_015046.7(SETX):c.3813A>G (p.Pro1271=) rs759945253 0.00001
NM_015046.7(SETX):c.382C>T (p.Arg128Cys) rs552476047 0.00001
NM_015046.7(SETX):c.3900C>T (p.Ser1300=) rs886063554 0.00001
NM_015046.7(SETX):c.4045C>G (p.Gln1349Glu) rs146407699 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.4114G>C (p.Asp1372His) rs1564539457 0.00001
NM_015046.7(SETX):c.4297A>G (p.Thr1433Ala) rs1038733632 0.00001
NM_015046.7(SETX):c.4563A>G (p.Glu1521=) rs374149839 0.00001
NM_015046.7(SETX):c.4707T>C (p.Ser1569=) rs769964668 0.00001
NM_015046.7(SETX):c.4989T>A (p.Ser1663=) rs185338915 0.00001
NM_015046.7(SETX):c.5203G>A (p.Val1735Ile) rs752646721 0.00001
NM_015046.7(SETX):c.5279C>T (p.Ala1760Val) rs758411198 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NM_015046.7(SETX):c.5501A>G (p.His1834Arg) rs770822383 0.00001
NM_015046.7(SETX):c.5503G>A (p.Glu1835Lys) rs143133190 0.00001
NM_015046.7(SETX):c.5697G>A (p.Arg1899=) rs765849036 0.00001
NM_015046.7(SETX):c.571G>A (p.Glu191Lys) rs929798338 0.00001
NM_015046.7(SETX):c.5786C>T (p.Ala1929Val) rs200571606 0.00001
NM_015046.7(SETX):c.5825T>C (p.Ile1942Thr) rs773379832 0.00001
NM_015046.7(SETX):c.5834C>T (p.Ala1945Val) rs1009296937 0.00001
NM_015046.7(SETX):c.5839G>A (p.Ala1947Thr) rs141440621 0.00001
NM_015046.7(SETX):c.5901A>G (p.Thr1967=) rs780717865 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.5936G>A (p.Arg1979His) rs761031238 0.00001
NM_015046.7(SETX):c.5950-14G>A rs375632375 0.00001
NM_015046.7(SETX):c.6158A>G (p.Asn2053Ser) rs1429339677 0.00001
NM_015046.7(SETX):c.6172A>C (p.Lys2058Gln) rs747309962 0.00001
NM_015046.7(SETX):c.617A>G (p.Glu206Gly) rs759880306 0.00001
NM_015046.7(SETX):c.6193G>C (p.Val2065Leu) rs755531730 0.00001
NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile) rs751252138 0.00001
NM_015046.7(SETX):c.6313C>T (p.Arg2105Trp) rs142843968 0.00001
NM_015046.7(SETX):c.6351C>T (p.Ser2117=) rs200269892 0.00001
NM_015046.7(SETX):c.6620A>T (p.Asp2207Val) rs1564482221 0.00001
NM_015046.7(SETX):c.6897dup (p.Phe2300fs) rs1331217337 0.00001
NM_015046.7(SETX):c.7103C>G (p.Pro2368Arg) rs1420833435 0.00001
NM_015046.7(SETX):c.7139G>A (p.Arg2380Gln) rs145397619 0.00001
NM_015046.7(SETX):c.71A>G (p.Asn24Ser) rs981346599 0.00001
NM_015046.7(SETX):c.7290A>T (p.Glu2430Asp) rs912160285 0.00001
NM_015046.7(SETX):c.7417C>G (p.Leu2473Val) rs760196991 0.00001
NM_015046.7(SETX):c.7473C>T (p.Pro2491=) rs1173009713 0.00001
NM_015046.7(SETX):c.7590T>A (p.Pro2530=) rs1374204163 0.00001
NM_015046.7(SETX):c.7771G>A (p.Ala2591Thr) rs146862359 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_015046.7(SETX):c.866C>T (p.Ala289Val) rs1237541645 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015046.7(SETX):c.998A>G (p.Asn333Ser) rs538829833 0.00001
NM_015046.7(SETX):c.99C>T (p.Ala33=) rs762914576 0.00001
NM_001195248.2(APTX):c.*851_*852del rs377365362
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.742T>C (p.Leu248=) rs141195622
NM_001195248.2(APTX):c.771-12dup rs34600530
NM_015046.5(SETX):c.-190G>A rs1055615359
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_015046.6(SETX):c.6848_6851delCAGA
NM_015046.7(SETX):c.*1050A>C rs1842477894
NM_015046.7(SETX):c.*1148T>C rs138991890
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1233A>G rs1388263414
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_015046.7(SETX):c.*1433A>T rs886063550
NM_015046.7(SETX):c.*1487A>G rs1842460355
NM_015046.7(SETX):c.*1494A>G rs1327797847
NM_015046.7(SETX):c.*1713C>T rs771853459
NM_015046.7(SETX):c.*1987T>C rs1589593075
NM_015046.7(SETX):c.*2002A>G rs886063547
NM_015046.7(SETX):c.*2015C>T rs552487555
NM_015046.7(SETX):c.*2136A>T rs886063545
NM_015046.7(SETX):c.*2190A>G rs531640605
NM_015046.7(SETX):c.*2576_*2577del rs886063544
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.*431_*432del rs112251805
NM_015046.7(SETX):c.*608G>C rs528924481
NM_015046.7(SETX):c.-154G>C rs886063561
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.1166T>C (p.Leu389Ser) rs29001584
NM_015046.7(SETX):c.1285A>G (p.Ile429Val) rs747053403
NM_015046.7(SETX):c.12TTG[1] (p.Cys5del) rs774123592
NM_015046.7(SETX):c.1358A>G (p.Lys453Arg) rs886063559
NM_015046.7(SETX):c.1427_1432del (p.His476_Leu477del) rs777314512
NM_015046.7(SETX):c.152G>A (p.Arg51Lys) rs777256092
NM_015046.7(SETX):c.156T>C (p.Asp52=) rs1848476611
NM_015046.7(SETX):c.1583C>T (p.Ser528Phe)
NM_015046.7(SETX):c.1922C>G (p.Ser641Cys) rs886063557
NM_015046.7(SETX):c.193G>A (p.Glu65Lys) rs1554825315
NM_015046.7(SETX):c.1993G>C (p.Glu665Gln) rs1339144218
NM_015046.7(SETX):c.2114_2118del (p.Ile705fs)
NM_015046.7(SETX):c.2332C>T (p.Arg778Ter) rs747501465
NM_015046.7(SETX):c.2387_2390del (p.Lys796fs) rs745775419
NM_015046.7(SETX):c.2517C>T (p.His839=) rs1464623855
NM_015046.7(SETX):c.2533C>T (p.Pro845Ser) rs1847046317
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2698A>G (p.Thr900Ala) rs1320466105
NM_015046.7(SETX):c.2849C>A (p.Ser950Tyr) rs1847020598
NM_015046.7(SETX):c.2958G>A (p.Gln986=) rs969060686
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.3021T>A (p.Asp1007Glu) rs1847007637
NM_015046.7(SETX):c.3040ATT[2] (p.Ile1016del) rs765663814
NM_015046.7(SETX):c.3057TGA[4] (p.Asp1023_Asp1024del) rs572772837
NM_015046.7(SETX):c.3057TGA[7] (p.Asp1024dup) rs572772837
NM_015046.7(SETX):c.3162_3167del (p.Asn1054_Ser1055del) rs576141809
NM_015046.7(SETX):c.3242T>C (p.Phe1081Ser) rs1564542121
NM_015046.7(SETX):c.3247T>C (p.Phe1083Leu) rs2131444517
NM_015046.7(SETX):c.32G>A (p.Gly11Asp) rs886063560
NM_015046.7(SETX):c.3350C>T (p.Thr1117Ile) rs1564541749
NM_015046.7(SETX):c.3376T>G (p.Tyr1126Asp) rs907569728
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.3497A>G (p.Glu1166Gly) rs1554820858
NM_015046.7(SETX):c.3651G>C (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.3651G>T (p.Thr1217=) rs111419285
NM_015046.7(SETX):c.389-9del rs534931548
NM_015046.7(SETX):c.3890A>T (p.Tyr1297Phe)
NM_015046.7(SETX):c.3950T>C (p.Val1317Ala) rs1564539968
NM_015046.7(SETX):c.397T>G (p.Cys133Gly) rs766625711
NM_015046.7(SETX):c.4053A>G (p.Gln1351=) rs886063553
NM_015046.7(SETX):c.4316T>C (p.Leu1439Ser) rs1589737441
NM_015046.7(SETX):c.4336G>T (p.Val1446Leu) rs1477696040
NM_015046.7(SETX):c.4386A>G (p.Glu1462=) rs1554820336
NM_015046.7(SETX):c.43A>G (p.Ile15Val) rs151040199
NM_015046.7(SETX):c.4517T>C (p.Met1506Thr) rs199974622
NM_015046.7(SETX):c.4613G>A (p.Arg1538Gln)
NM_015046.7(SETX):c.4816C>T (p.Arg1606Ter) rs759213174
NM_015046.7(SETX):c.4898C>T (p.Ser1633Leu) rs1022473091
NM_015046.7(SETX):c.4924C>A (p.Pro1642Thr) rs375942182
NM_015046.7(SETX):c.4931_4932del (p.Ile1644fs) rs2131428041
NM_015046.7(SETX):c.4934C>G (p.Ala1645Gly)
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015046.7(SETX):c.5083C>T (p.Gln1695Ter) rs1589734405
NM_015046.7(SETX):c.5267T>A (p.Phe1756Tyr) rs762175796
NM_015046.7(SETX):c.5276del (p.Val1759fs)
NM_015046.7(SETX):c.5308_5311del (p.Glu1770fs) rs750959420
NM_015046.7(SETX):c.5315T>C (p.Phe1772Ser) rs886063552
NM_015046.7(SETX):c.5375-18CTT[2] rs201317659
NM_015046.7(SETX):c.5809G>T (p.Asp1937Tyr) rs1844714133
NM_015046.7(SETX):c.5809_5811delinsTAC (p.Asp1937Tyr) rs1844713785
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs) rs797045067
NM_015046.7(SETX):c.5890C>T (p.Pro1964Ser) rs1403263153
NM_015046.7(SETX):c.58C>T (p.Arg20Cys)
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr) rs200154603
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+8A>G rs1314479594
NM_015046.7(SETX):c.6106G>C (p.Gly2036Arg) rs863224919
NM_015046.7(SETX):c.6107-7T>A rs766634428
NM_015046.7(SETX):c.6215_6216del (p.Glu2072fs) rs1564492117
NM_015046.7(SETX):c.6322C>T (p.Gln2108Ter) rs879253866
NM_015046.7(SETX):c.6464T>G (p.Leu2155Trp) rs1473613373
NM_015046.7(SETX):c.6637C>G (p.Pro2213Ala) rs1843502057
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015046.7(SETX):c.667C>A (p.Leu223Ile) rs774068411
NM_015046.7(SETX):c.668T>A (p.Leu223His) rs1211053963
NM_015046.7(SETX):c.6694C>T (p.Arg2232Cys) rs759299299
NM_015046.7(SETX):c.6729_6730del (p.His2243fs) rs752122764
NM_015046.7(SETX):c.6733A>G (p.Met2245Val)
NM_015046.7(SETX):c.6843-16dup rs34769225
NM_015046.7(SETX):c.6843-5del rs34769225
NM_015046.7(SETX):c.6843-6_6843-5dup rs34769225
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter) rs1339011741
NM_015046.7(SETX):c.6931_6933del (p.Asn2311del)
NM_015046.7(SETX):c.7100+3G>A rs752203746
NM_015046.7(SETX):c.7157T>C (p.Ile2386Thr) rs201887051
NM_015046.7(SETX):c.718+3G>C rs2131504173
NM_015046.7(SETX):c.719G>A (p.Gly240Asp) rs1589757407
NM_015046.7(SETX):c.7200-10dup rs531485265
NM_015046.7(SETX):c.7292dup (p.Asn2431fs) rs2131115543
NM_015046.7(SETX):c.7309C>G (p.Leu2437Val) rs1564464665
NM_015046.7(SETX):c.7375G>A (p.Ala2459Thr) rs1182285610
NM_015046.7(SETX):c.737C>G (p.Thr246Ser) rs1847481832
NM_015046.7(SETX):c.7488C>G (p.Asp2496Glu)
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015046.7(SETX):c.7648A>G (p.Lys2550Glu) rs1842546596
NM_015046.7(SETX):c.7708CCT[1] (p.Pro2571del) rs770590408
NM_015046.7(SETX):c.7725G>A (p.Pro2575=) rs201695580
NM_015046.7(SETX):c.7735G>A (p.Val2579Ile) rs144121978
NM_015046.7(SETX):c.7749C>T (p.Asp2583=) rs754701648
NM_015046.7(SETX):c.7750C>T (p.Leu2584=) rs1842537896
NM_015046.7(SETX):c.7775C>T (p.Ala2592Val) rs1842534708
NM_015046.7(SETX):c.77C>G (p.Pro26Arg) rs377617692
NM_015046.7(SETX):c.7825C>G (p.Pro2609Ala) rs765888424
NM_015046.7(SETX):c.7856A>G (p.Gln2619Arg) rs1421049695
NM_015046.7(SETX):c.7875G>A (p.Pro2625=) rs536241867
NM_015046.7(SETX):c.7948_7961del (p.Thr2650fs)
NM_015046.7(SETX):c.988C>T (p.His330Tyr) rs1847220041

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