ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_004287.5(GOSR2):c.*301T>C rs8078556 0.93627
NM_198859.4(PRICKLE2):c.*1605T>G rs26938 0.93091
NM_198859.4(PRICKLE2):c.*2772A>G rs27383 0.92477
NM_198859.4(PRICKLE2):c.*4733G>A rs153732 0.90732
NM_198859.4(PRICKLE2):c.*4797G>A rs153733 0.90729
NM_198859.4(PRICKLE2):c.*695A>C rs26937 0.54681
NM_004287.5(GOSR2):c.*2337T>C rs1052586 0.48306
NM_004287.5(GOSR2):c.*1519T>C rs4968286 0.44908
NM_004287.5(GOSR2):c.*1733A>G rs758392 0.41414
NM_004287.5(GOSR2):c.*1115G>A rs758391 0.38725
NM_198859.4(PRICKLE2):c.*3491A>G rs153730 0.35921
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_198859.4(PRICKLE2):c.*1763G>A rs26939 0.33203
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys) rs197922 0.32616
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_198859.4(PRICKLE2):c.*2797A>T rs35969433 0.18557
NM_198859.4(PRICKLE2):c.-557C>T rs697287 0.17712
NM_198859.4(PRICKLE2):c.*1310C>T rs17069879 0.16935
NM_198859.4(PRICKLE2):c.*2891C>T rs34723451 0.15467
NM_198859.4(PRICKLE2):c.*2724C>A rs12494731 0.14074
NM_004287.5(GOSR2):c.*2292C>T rs79673308 0.10999
NM_004287.5(GOSR2):c.*1067G>A rs11874 0.08663
NM_198859.4(PRICKLE2):c.*2447G>A rs56262708 0.07615
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_198859.4(PRICKLE2):c.*1589G>A rs62249882 0.04161
NM_004287.5(GOSR2):c.*1062A>T rs16941324 0.03601
NM_000100.3(CSTB):c.-54C>T rs59649299 0.03508
NM_004287.5(GOSR2):c.*1655A>G rs116123534 0.03006
NM_198859.4(PRICKLE2):c.*2567A>T rs62249881 0.02734
NM_198859.4(PRICKLE2):c.*3333T>C rs72874609 0.02403
NM_004287.5(GOSR2):c.*2342A>G rs61745471 0.01873
NM_000100.4(CSTB):c.15G>T (p.Ala5=) rs4533 0.01826
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_000100.4(CSTB):c.*74T>C rs6385 0.01682
NM_000100.4(CSTB):c.*93A>G rs9446 0.01254
NM_198859.4(PRICKLE2):c.-252G>C rs142388795 0.01230
NM_198859.4(PRICKLE2):c.-68G>A rs150393747 0.01201
NM_004287.5(GOSR2):c.*2293G>A rs77706742 0.01200
NM_198859.4(PRICKLE2):c.*1277C>G rs17069880 0.00857
NM_198859.4(PRICKLE2):c.*3489G>A rs143062140 0.00811
NM_000100.3(CSTB):c.*355C>G rs143062585 0.00808
NM_000100.4(CSTB):c.*69A>G rs142767585 0.00798
NM_198859.4(PRICKLE2):c.*3852C>A rs153731 0.00717
NM_004287.5(GOSR2):c.*1377G>A rs180777362 0.00573
NM_198859.4(PRICKLE2):c.*3864T>C rs544825776 0.00560
NM_000100.4(CSTB):c.67-3T>C rs6383 0.00473
NM_198859.4(PRICKLE2):c.*1044C>T rs111362297 0.00452
NM_198859.4(PRICKLE2):c.-370G>A rs139238137 0.00356
NM_004287.5(GOSR2):c.*1679A>G rs149765350 0.00273
NM_198859.4(PRICKLE2):c.-562G>A rs113321925 0.00266
NM_198859.4(PRICKLE2):c.*560T>A rs528463950 0.00238
NM_004287.5(GOSR2):c.40G>A (p.Glu14Lys) rs113817924 0.00232
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_198859.4(PRICKLE2):c.-482A>G rs143342419 0.00219
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283 0.00204
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069 0.00190
NM_004287.5(GOSR2):c.*2057C>T rs368549324 0.00180
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
NM_000100.4(CSTB):c.121G>A (p.Val41Met) rs143153487 0.00101
NM_198859.4(PRICKLE2):c.*4994C>T rs190966782 0.00089
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_198859.4(PRICKLE2):c.*3632T>C rs140681630 0.00063
NM_000100.3(CSTB):c.*435G>A rs149039598 0.00061
NM_198859.4(PRICKLE2):c.*4472G>T rs575410668 0.00059
NM_004287.5(GOSR2):c.*2336A>T rs569751775 0.00055
NM_004287.5(GOSR2):c.*1703A>G rs144662292 0.00053
NM_004287.5(GOSR2):c.148C>T (p.Arg50Cys) rs143754727 0.00052
NM_000100.3(CSTB):c.*319G>A rs536069557 0.00050
NM_198859.4(PRICKLE2):c.*2290T>C rs192971326 0.00048
NM_198859.4(PRICKLE2):c.-258C>T rs1044268884 0.00048
NM_198859.4(PRICKLE2):c.*1868G>C rs886058791 0.00036
NM_004287.5(GOSR2):c.*2192T>G rs545130658 0.00034
NM_198859.4(PRICKLE2):c.*3830T>C rs574878914 0.00032
NM_198859.4(PRICKLE2):c.*3755A>G rs756531877 0.00029
NM_000100.4(CSTB):c.67-1G>C rs147484110 0.00027
NM_198859.4(PRICKLE2):c.*3116C>T rs1045343958 0.00026
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942 0.00023
NM_004287.5(GOSR2):c.*2291C>G rs186093347 0.00021
NM_198859.4(PRICKLE2):c.*133G>A rs370569305 0.00021
NM_198859.4(PRICKLE2):c.-146G>A rs539401922 0.00021
NM_198859.4(PRICKLE2):c.*3325G>A rs531639386 0.00018
NM_198859.4(PRICKLE2):c.*1991C>T rs570616523 0.00017
NM_198859.4(PRICKLE2):c.*4354C>G rs186186236 0.00017
NM_000100.3(CSTB):c.-42C>T rs776181852 0.00016
NM_004287.5(GOSR2):c.*1446A>T rs572361575 0.00016
NM_000100.3(CSTB):c.*334G>A rs533969154 0.00015
NM_198859.4(PRICKLE2):c.*2475G>A rs905971725 0.00014
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00014
NM_000100.4(CSTB):c.-12G>A rs779920568 0.00013
NM_198859.4(PRICKLE2):c.*690G>A rs779719872 0.00013
NM_198859.4(PRICKLE2):c.-447C>T rs886058806 0.00013
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_198859.4(PRICKLE2):c.*3504C>T rs538054092 0.00012
NM_198859.4(PRICKLE2):c.*469G>T rs148724634 0.00012
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00012
NM_198859.4(PRICKLE2):c.*1982A>G rs377752523 0.00011
NM_004287.5(GOSR2):c.246T>C (p.Thr82=) rs141380070 0.00010
NM_198859.4(PRICKLE2):c.*1568C>T rs558482444 0.00010
NM_198859.4(PRICKLE2):c.*4769A>G rs981163962 0.00010
NM_198859.4(PRICKLE2):c.*5092T>C rs1056419773 0.00009
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200 0.00009
NM_000100.4(CSTB):c.45G>A (p.Glu15=) rs1057521317 0.00007
NM_198859.4(PRICKLE2):c.*146C>T rs142263776 0.00007
NM_198859.4(PRICKLE2):c.*65G>A rs575414554 0.00007
NM_000100.3(CSTB):c.*301G>A rs886057111 0.00006
NM_153026.3(PRICKLE1):c.*594_*595del rs769616581 0.00006
NM_153026.3(PRICKLE1):c.-279_-277dup rs886049380 0.00006
NM_198859.4(PRICKLE2):c.-122G>T rs536662179 0.00006
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met) rs368904012 0.00006
NM_004287.5(GOSR2):c.404A>G (p.Asn135Ser) rs765513191 0.00004
NM_198859.4(PRICKLE2):c.*3672C>G rs904907709 0.00004
NM_198859.4(PRICKLE2):c.-285A>T rs886058803 0.00004
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=) rs148888682 0.00004
NM_000100.4(CSTB):c.*209A>T rs1466237377 0.00003
NM_000100.4(CSTB):c.9C>T (p.Cys3=) rs555930471 0.00003
NM_004287.5(GOSR2):c.*18G>T rs778066395 0.00003
NM_004287.5(GOSR2):c.*2253C>T rs886053085 0.00003
NM_153026.3(PRICKLE1):c.*614G>A rs886049372 0.00003
NM_198859.4(PRICKLE2):c.*2633G>A rs140420417 0.00003
NM_198859.4(PRICKLE2):c.*2909T>A rs545276442 0.00003
NM_198859.4(PRICKLE2):c.*4109C>G rs886058784 0.00003
NM_198859.4(PRICKLE2):c.*4455A>G rs746249344 0.00003
NM_198859.4(PRICKLE2):c.-271A>G rs886058802 0.00003
NM_198859.4(PRICKLE2):c.-363G>A rs569115082 0.00003
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp) rs772691573 0.00003
NM_000100.3(CSTB):c.-43C>G rs886057113 0.00002
NM_000100.4(CSTB):c.202C>T (p.Arg68Ter) rs74315442 0.00002
NM_004287.5(GOSR2):c.*1277C>G rs577505377 0.00002
NM_004287.5(GOSR2):c.*2195C>A rs565638240 0.00002
NM_198859.4(PRICKLE2):c.*1114C>T rs752334583 0.00002
NM_198859.4(PRICKLE2):c.*1633G>A rs1405669224 0.00002
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859 0.00002
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996 0.00002
NM_198859.4(PRICKLE2):c.*3540C>T rs977486642 0.00002
NM_198859.4(PRICKLE2):c.*4531T>C rs1404217716 0.00002
NM_198859.4(PRICKLE2):c.-371C>T rs886058805 0.00002
NM_198859.4(PRICKLE2):c.-559A>G rs550234814 0.00002
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106 0.00002
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys) rs749232741 0.00002
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=) rs886058800 0.00002
NM_000100.3(CSTB):c.-55G>A rs533879406 0.00001
NM_000100.4(CSTB):c.169-14C>T rs757593576 0.00001
NM_000100.4(CSTB):c.169G>T (p.Val57Leu) rs796052394 0.00001
NM_004287.5(GOSR2):c.*2213G>T rs886053084 0.00001
NM_004287.5(GOSR2):c.*2589T>C rs886053087 0.00001
NM_004287.5(GOSR2):c.541C>G (p.Leu181Val) rs772342696 0.00001
NM_198859.4(PRICKLE2):c.*1292A>G rs934193331 0.00001
NM_198859.4(PRICKLE2):c.*1495T>C rs879297640 0.00001
NM_198859.4(PRICKLE2):c.*2089C>T rs577636282 0.00001
NM_198859.4(PRICKLE2):c.*4071A>G rs886058785 0.00001
NM_198859.4(PRICKLE2):c.*4196T>G rs1389084658 0.00001
NM_198859.4(PRICKLE2):c.*4330A>T rs538069337 0.00001
NM_198859.4(PRICKLE2):c.*943G>T rs953505615 0.00001
NM_198859.4(PRICKLE2):c.-13C>G rs750990245 0.00001
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989 0.00001
NM_198859.4(PRICKLE2):c.1334A>C (p.His445Pro) rs1162884450 0.00001
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr) rs763974341 0.00001
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg) rs766757910 0.00001
NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe) rs886058801 0.00001
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417 0.00001
NM_000100.3(CSTB):c.*287G>A rs768173714
NM_000100.3(CSTB):c.*325A>G rs28691645
NM_000100.4(CSTB):c.*227A>G rs886057112
NM_000100.4(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_004287.4(GOSR2):c.-64G>T rs886053076
NM_004287.5(GOSR2):c.*1105A>T rs780111337
NM_004287.5(GOSR2):c.*1711G>A rs11657819
NM_004287.5(GOSR2):c.*2068C>G rs886053082
NM_004287.5(GOSR2):c.*2190TC[2] rs553512648
NM_004287.5(GOSR2):c.*2573G>A rs886053086
NM_004287.5(GOSR2):c.*286G>T rs78693564
NM_004287.5(GOSR2):c.*288_*296dup rs376212419
NM_004287.5(GOSR2):c.*332A>G rs886053079
NM_004287.5(GOSR2):c.*412C>A rs886053080
NM_004287.5(GOSR2):c.*804A>G rs886053081
NM_004287.5(GOSR2):c.-12G>C rs183199
NM_004287.5(GOSR2):c.-20T>G rs886053077
NM_004287.5(GOSR2):c.-30G>C rs189899
NM_004287.5(GOSR2):c.-7C>G rs760018200
NM_004287.5(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.5(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_153026.3(PRICKLE1):c.*142G>A rs886049374
NM_153026.3(PRICKLE1):c.*552del rs68074167
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3] rs561368128
NM_153033.4(KCTD7):c.*3935_*3937CAA[1] rs35961913
NM_153033.5(KCTD7):c.*2223_*2226dup rs886062422
NM_153033.5(KCTD7):c.*860CCT[1] rs886062416
NM_198859.4(PRICKLE2):c.*1157G>C rs764784009
NM_198859.4(PRICKLE2):c.*1274C>T rs952345194
NM_198859.4(PRICKLE2):c.*1476A>G rs886058793
NM_198859.4(PRICKLE2):c.*1508A>G rs2076588182
NM_198859.4(PRICKLE2):c.*1560C>T rs886058792
NM_198859.4(PRICKLE2):c.*1621A>G rs2076586727
NM_198859.4(PRICKLE2):c.*1647T>A rs2076586208
NM_198859.4(PRICKLE2):c.*1682C>T rs938048041
NM_198859.4(PRICKLE2):c.*1964C>T rs886058790
NM_198859.4(PRICKLE2):c.*1970T>C rs886058789
NM_198859.4(PRICKLE2):c.*2102G>A rs2076579772
NM_198859.4(PRICKLE2):c.*2207C>T rs886058788
NM_198859.4(PRICKLE2):c.*2288C>T rs866060288
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT rs386661734
NM_198859.4(PRICKLE2):c.*2391C>T rs184544359
NM_198859.4(PRICKLE2):c.*2666G>T rs2076573078
NM_198859.4(PRICKLE2):c.*2782C>G rs530804190
NM_198859.4(PRICKLE2):c.*2856C>G rs886058787
NM_198859.4(PRICKLE2):c.*2980_*2981dup rs759645403
NM_198859.4(PRICKLE2):c.*3065C>A rs1345198796
NM_198859.4(PRICKLE2):c.*3343G>A rs911667034
NM_198859.4(PRICKLE2):c.*3358T>A rs2076562693
NM_198859.4(PRICKLE2):c.*3496G>A rs2076560882
NM_198859.4(PRICKLE2):c.*3501C>G rs1358772449
NM_198859.4(PRICKLE2):c.*3755A>T rs756531877
NM_198859.4(PRICKLE2):c.*3862C>A rs886058786
NM_198859.4(PRICKLE2):c.*4182T>C rs2076548758
NM_198859.4(PRICKLE2):c.*4238C>T rs14056
NM_198859.4(PRICKLE2):c.*4257T>C rs886058783
NM_198859.4(PRICKLE2):c.*4595T>A rs886058782
NM_198859.4(PRICKLE2):c.*4787T>C rs886058781
NM_198859.4(PRICKLE2):c.*4861dup rs571451772
NM_198859.4(PRICKLE2):c.*4877C>T rs750274826
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.*792dup rs535354956
NM_198859.4(PRICKLE2):c.*995C>A rs886058794
NM_198859.4(PRICKLE2):c.-219A>G rs2079012814
NM_198859.4(PRICKLE2):c.-287A>G rs867607794
NM_198859.4(PRICKLE2):c.-320A>C rs886058804
NM_198859.4(PRICKLE2):c.-552G>C rs2079017666
NM_198859.4(PRICKLE2):c.-573CCA[1] rs886058807
NM_198859.4(PRICKLE2):c.-89G>C rs901964486
NM_198859.4(PRICKLE2):c.1263G>T (p.Gln421His) rs2077471398
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
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.2100C>G (p.His700Gln) rs2076619261
NM_198859.4(PRICKLE2):c.531A>G (p.Gln177=) rs780089157

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