ClinVar Miner

List of variants studied for Unverricht-Lundborg syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 273
Download table as spreadsheet
HGVS dbSNP
NM_000100.3(CSTB):c.*227A>G rs886057112
NM_000100.3(CSTB):c.*301G>A rs886057111
NM_000100.3(CSTB):c.*325A>G rs28691645
NM_000100.3(CSTB):c.*355C>G rs143062585
NM_000100.3(CSTB):c.*435G>A rs149039598
NM_000100.3(CSTB):c.*69A>G rs142767585
NM_000100.3(CSTB):c.*74T>C rs6385
NM_000100.3(CSTB):c.-42C>T rs776181852
NM_000100.3(CSTB):c.-43C>G rs886057113
NM_000100.3(CSTB):c.-54C>T rs59649299
NM_000100.3(CSTB):c.-55G>A rs533879406
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.169-14C>T rs757593576
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_004287.4(GOSR2):c.*1062A>T rs16941324
NM_004287.4(GOSR2):c.*1067G>A rs11874
NM_004287.4(GOSR2):c.*1105A>T rs780111337
NM_004287.4(GOSR2):c.*1115G>A rs758391
NM_004287.4(GOSR2):c.*1277C>G rs577505377
NM_004287.4(GOSR2):c.*1377G>A rs180777362
NM_004287.4(GOSR2):c.*1446A>T rs572361575
NM_004287.4(GOSR2):c.*1519T>C rs4968286
NM_004287.4(GOSR2):c.*1655A>G rs116123534
NM_004287.4(GOSR2):c.*1679A>G rs149765350
NM_004287.4(GOSR2):c.*1703A>G rs144662292
NM_004287.4(GOSR2):c.*1711G>A rs11657819
NM_004287.4(GOSR2):c.*1733A>G rs758392
NM_004287.4(GOSR2):c.*18G>T rs778066395
NM_004287.4(GOSR2):c.*2057C>T rs368549324
NM_004287.4(GOSR2):c.*2068C>G rs886053082
NM_004287.4(GOSR2):c.*2190_*2191TC[2] rs553512648
NM_004287.4(GOSR2):c.*2192T>G rs545130658
NM_004287.4(GOSR2):c.*2195C>A rs565638240
NM_004287.4(GOSR2):c.*2213G>T rs886053084
NM_004287.4(GOSR2):c.*2253C>T rs886053085
NM_004287.4(GOSR2):c.*2291C>G rs186093347
NM_004287.4(GOSR2):c.*2292C>T rs79673308
NM_004287.4(GOSR2):c.*2293G>A rs77706742
NM_004287.4(GOSR2):c.*2336A>T rs569751775
NM_004287.4(GOSR2):c.*2337T>C rs1052586
NM_004287.4(GOSR2):c.*2342A>G rs61745471
NM_004287.4(GOSR2):c.*2573G>A rs886053086
NM_004287.4(GOSR2):c.*2589T>C rs886053087
NM_004287.4(GOSR2):c.*286G>T rs78693564
NM_004287.4(GOSR2):c.*288_*296dup rs376212419
NM_004287.4(GOSR2):c.*301T>C rs8078556
NM_004287.4(GOSR2):c.*332A>G rs886053079
NM_004287.4(GOSR2):c.*412C>A rs886053080
NM_004287.4(GOSR2):c.*804A>G rs886053081
NM_004287.4(GOSR2):c.-12G>C rs183199
NM_004287.4(GOSR2):c.-20T>G rs886053077
NM_004287.4(GOSR2):c.-30G>C rs189899
NM_004287.4(GOSR2):c.-64G>T rs886053076
NM_004287.4(GOSR2):c.-7C>G rs760018200
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004287.4(GOSR2):c.246T>C (p.Thr82=) rs141380070
NM_004287.4(GOSR2):c.29+13C>T rs747791818
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.4(GOSR2):c.404A>G (p.Asn135Ser) rs765513191
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.541C>G (p.Leu181Val) rs772342696
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_153026.3(PRICKLE1):c.*1044C>T rs543795157
NM_153026.3(PRICKLE1):c.*1047C>T rs11181513
NM_153026.3(PRICKLE1):c.*1218G>A rs886049371
NM_153026.3(PRICKLE1):c.*1283G>T rs1669933
NM_153026.3(PRICKLE1):c.*1292T>C rs886049370
NM_153026.3(PRICKLE1):c.*1394G>A rs1051453
NM_153026.3(PRICKLE1):c.*142G>A rs886049374
NM_153026.3(PRICKLE1):c.*233C>T rs886049373
NM_153026.3(PRICKLE1):c.*261T>C rs1043656
NM_153026.3(PRICKLE1):c.*398G>T rs17091220
NM_153026.3(PRICKLE1):c.*430C>G rs141738298
NM_153026.3(PRICKLE1):c.*46G>C rs147122337
NM_153026.3(PRICKLE1):c.*527G>T rs12658
NM_153026.3(PRICKLE1):c.*546A>C rs767986403
NM_153026.3(PRICKLE1):c.*552del rs68074167
NM_153026.3(PRICKLE1):c.*594_*595del rs769616581
NM_153026.3(PRICKLE1):c.*614G>A rs886049372
NM_153026.3(PRICKLE1):c.*70G>A rs759888600
NM_153026.3(PRICKLE1):c.*715G>T rs147942021
NM_153026.3(PRICKLE1):c.*897G>A rs368596743
NM_153026.3(PRICKLE1):c.*91T>C rs1043652
NM_153026.3(PRICKLE1):c.*983C>A rs73126459
NM_153026.3(PRICKLE1):c.-122_-115CGCAGCCC[3] rs561368128
NM_153026.3(PRICKLE1):c.-142G>A rs886049377
NM_153026.3(PRICKLE1):c.-181G>A rs117521428
NM_153026.3(PRICKLE1):c.-190C>G rs145508056
NM_153026.3(PRICKLE1):c.-204G>A rs548377394
NM_153026.3(PRICKLE1):c.-213G>C rs557557453
NM_153026.3(PRICKLE1):c.-238C>G rs886049378
NM_153026.3(PRICKLE1):c.-246G>A rs886049379
NM_153026.3(PRICKLE1):c.-279_-277dup rs886049380
NM_153026.3(PRICKLE1):c.-287C>G rs886049381
NM_153026.3(PRICKLE1):c.-33G>A rs377567620
NM_153026.3(PRICKLE1):c.-40G>A rs370363439
NM_153026.3(PRICKLE1):c.1072T>G (p.Tyr358Asp) rs886049376
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr) rs774422189
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.3(PRICKLE1):c.1639+15G>T rs778854960
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562
NM_153026.3(PRICKLE1):c.2212A>G (p.Thr738Ala) rs886049375
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153033.4(KCTD7):c.*1123A>G rs886062418
NM_153033.4(KCTD7):c.*1293A>G rs886062419
NM_153033.4(KCTD7):c.*1581C>G rs570131389
NM_153033.4(KCTD7):c.*1587C>T rs190087991
NM_153033.4(KCTD7):c.*1619A>G rs115778754
NM_153033.4(KCTD7):c.*1624T>C rs765576236
NM_153033.4(KCTD7):c.*1727G>C rs17229513
NM_153033.4(KCTD7):c.*1740G>A rs886062420
NM_153033.4(KCTD7):c.*1810C>T rs886062421
NM_153033.4(KCTD7):c.*1911C>G rs565110569
NM_153033.4(KCTD7):c.*1926G>A rs117267079
NM_153033.4(KCTD7):c.*1960T>C rs752605506
NM_153033.4(KCTD7):c.*2009A>G rs184129807
NM_153033.4(KCTD7):c.*2080A>G rs73702140
NM_153033.4(KCTD7):c.*216A>G rs77341088
NM_153033.4(KCTD7):c.*2175C>A rs369221941
NM_153033.4(KCTD7):c.*221G>T rs151151235
NM_153033.4(KCTD7):c.*2223_*2226dup rs886062422
NM_153033.4(KCTD7):c.*2322G>A rs886062423
NM_153033.4(KCTD7):c.*2656A>G rs1860469
NM_153033.4(KCTD7):c.*2692A>G rs573138370
NM_153033.4(KCTD7):c.*2746G>C rs886062424
NM_153033.4(KCTD7):c.*2805C>T rs1267818
NM_153033.4(KCTD7):c.*2806G>A rs886062425
NM_153033.4(KCTD7):c.*2868C>T rs886062426
NM_153033.4(KCTD7):c.*3033T>C rs1860468
NM_153033.4(KCTD7):c.*3508G>T rs573049844
NM_153033.4(KCTD7):c.*354C>G rs540871291
NM_153033.4(KCTD7):c.*3752C>G rs73133851
NM_153033.4(KCTD7):c.*3825T>A rs768325782
NM_153033.4(KCTD7):c.*3836T>G rs370135424
NM_153033.4(KCTD7):c.*3935_*3937CAA[1] rs35961913
NM_153033.4(KCTD7):c.*3961C>T rs144713969
NM_153033.4(KCTD7):c.*3991G>C rs147205609
NM_153033.4(KCTD7):c.*55C>T rs886062414
NM_153033.4(KCTD7):c.*668T>G rs765653009
NM_153033.4(KCTD7):c.*690G>C rs4718382
NM_153033.4(KCTD7):c.*708C>T rs79736939
NM_153033.4(KCTD7):c.*837A>G rs886062415
NM_153033.4(KCTD7):c.*860_*862CCT[1] rs886062416
NM_153033.4(KCTD7):c.*880T>C rs117143942
NM_153033.4(KCTD7):c.*892C>T rs886062417
NM_153033.4(KCTD7):c.*944C>G rs9791712
NM_153033.4(KCTD7):c.*979C>A rs9791713
NM_153033.4(KCTD7):c.-145C>G rs886062409
NM_153033.4(KCTD7):c.-155G>C rs886062408
NM_153033.4(KCTD7):c.-170G>T rs191169882
NM_153033.4(KCTD7):c.-181T>G rs886062407
NM_153033.4(KCTD7):c.-44C>T rs35526611
NM_153033.4(KCTD7):c.-46C>G rs886062412
NM_153033.4(KCTD7):c.-49C>T rs374505432
NM_153033.4(KCTD7):c.-69C>T rs536230559
NM_153033.4(KCTD7):c.-87A>C rs886062411
NM_153033.4(KCTD7):c.-94C>T rs886062410
NM_153033.4(KCTD7):c.18G>C (p.Gly6=) rs886062413
NM_153033.4(KCTD7):c.267G>A (p.Thr89=) rs3764904
NM_153033.4(KCTD7):c.273C>T (p.Ser91=) rs139585796
NM_153033.4(KCTD7):c.369A>C (p.Arg123=) rs753658170
NM_153033.4(KCTD7):c.384G>A (p.Glu128=) rs145238250
NM_153033.4(KCTD7):c.403G>A (p.Gly135Arg) rs781725855
NM_153033.4(KCTD7):c.654C>T (p.Asp218=) rs117194263
NM_153033.4(KCTD7):c.68C>T (p.Ala23Val) rs745360140
NM_153033.4(KCTD7):c.749C>T (p.Thr250Met) rs760837610
NM_153033.4(KCTD7):c.76G>T (p.Asp26Tyr) rs371919994
NM_198859.4(PRICKLE2):c.*1114C>T rs752334583
NM_198859.4(PRICKLE2):c.*1277C>G rs17069880
NM_198859.4(PRICKLE2):c.*1310C>T rs17069879
NM_198859.4(PRICKLE2):c.*133G>A rs370569305
NM_198859.4(PRICKLE2):c.*1476A>G rs886058793
NM_198859.4(PRICKLE2):c.*1495T>C rs879297640
NM_198859.4(PRICKLE2):c.*1560C>T rs886058792
NM_198859.4(PRICKLE2):c.*1568C>T rs558482444
NM_198859.4(PRICKLE2):c.*1589G>A rs62249882
NM_198859.4(PRICKLE2):c.*1605T>G rs26938
NM_198859.4(PRICKLE2):c.*1763G>A rs26939
NM_198859.4(PRICKLE2):c.*1868G>C rs886058791
NM_198859.4(PRICKLE2):c.*1964C>T rs886058790
NM_198859.4(PRICKLE2):c.*1970T>C rs886058789
NM_198859.4(PRICKLE2):c.*1991C>T rs570616523
NM_198859.4(PRICKLE2):c.*2207C>T rs886058788
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859
NM_198859.4(PRICKLE2):c.*2288C>T rs866060288
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT rs386661734
NM_198859.4(PRICKLE2):c.*2447G>A rs56262708
NM_198859.4(PRICKLE2):c.*2567A>T rs62249881
NM_198859.4(PRICKLE2):c.*2724C>A rs12494731
NM_198859.4(PRICKLE2):c.*2772A>G rs27383
NM_198859.4(PRICKLE2):c.*2782C>G rs530804190
NM_198859.4(PRICKLE2):c.*2797A>T rs35969433
NM_198859.4(PRICKLE2):c.*2856C>G rs886058787
NM_198859.4(PRICKLE2):c.*2891C>T rs34723451
NM_198859.4(PRICKLE2):c.*2909T>A rs545276442
NM_198859.4(PRICKLE2):c.*2980_*2981dup rs759645403
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996
NM_198859.4(PRICKLE2):c.*3333T>C rs72874609
NM_198859.4(PRICKLE2):c.*3491A>G rs153730
NM_198859.4(PRICKLE2):c.*3755A>G rs756531877
NM_198859.4(PRICKLE2):c.*3862C>A rs886058786
NM_198859.4(PRICKLE2):c.*3864T>C rs544825776
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283
NM_198859.4(PRICKLE2):c.*4071A>G rs886058785
NM_198859.4(PRICKLE2):c.*4109C>G rs886058784
NM_198859.4(PRICKLE2):c.*4238C>T rs14056
NM_198859.4(PRICKLE2):c.*4257T>C rs886058783
NM_198859.4(PRICKLE2):c.*4330A>T rs538069337
NM_198859.4(PRICKLE2):c.*4455A>G rs746249344
NM_198859.4(PRICKLE2):c.*4595T>A rs886058782
NM_198859.4(PRICKLE2):c.*469G>T rs148724634
NM_198859.4(PRICKLE2):c.*4733G>A rs153732
NM_198859.4(PRICKLE2):c.*4787T>C rs886058781
NM_198859.4(PRICKLE2):c.*4797G>A rs153733
NM_198859.4(PRICKLE2):c.*4861dup rs571451772
NM_198859.4(PRICKLE2):c.*4994C>T rs190966782
NM_198859.4(PRICKLE2):c.*579del rs35195442
NM_198859.4(PRICKLE2):c.*580del rs370988517
NM_198859.4(PRICKLE2):c.*581dup rs886058797
NM_198859.4(PRICKLE2):c.*582A>T rs886058796
NM_198859.4(PRICKLE2):c.*584del rs886058795
NM_198859.4(PRICKLE2):c.*690G>A rs779719872
NM_198859.4(PRICKLE2):c.*695A>C rs26937
NM_198859.4(PRICKLE2):c.*792dup rs535354956
NM_198859.4(PRICKLE2):c.*995C>A rs886058794
NM_198859.4(PRICKLE2):c.-13C>G rs750990245
NM_198859.4(PRICKLE2):c.-252G>C rs142388795
NM_198859.4(PRICKLE2):c.-271A>G rs886058802
NM_198859.4(PRICKLE2):c.-285A>T rs886058803
NM_198859.4(PRICKLE2):c.-287A>G rs867607794
NM_198859.4(PRICKLE2):c.-320A>C rs886058804
NM_198859.4(PRICKLE2):c.-363G>A rs569115082
NM_198859.4(PRICKLE2):c.-370G>A rs139238137
NM_198859.4(PRICKLE2):c.-371C>T rs886058805
NM_198859.4(PRICKLE2):c.-447C>T rs886058806
NM_198859.4(PRICKLE2):c.-557C>T rs697287
NM_198859.4(PRICKLE2):c.-559A>G rs550234814
NM_198859.4(PRICKLE2):c.-573_-571CCA[1] rs886058807
NM_198859.4(PRICKLE2):c.-68G>A rs150393747
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=) rs886058800
NM_198859.4(PRICKLE2):c.1675G>A (p.Gly559Ser) rs886058799
NM_198859.4(PRICKLE2):c.1752T>A (p.Ser584=) rs886058798
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380
NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe) rs886058801
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293

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