ClinVar Miner

List of variants studied for Progressive myoclonic epilepsy by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 200
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HGVS dbSNP
NM_001167961.2(KCTD7):c.*2773_*2775CAA[1] rs35961913
NM_001167961.2(KCTD7):c.867-299_867-297del rs886062416
NM_001321133.2(GOSR2):c.583+2245CT[2] rs553512648
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.*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.*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_054022.4(GOSR2):c.583+344_583+352dup rs376212419
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.*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.*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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