ClinVar Miner

List of variants studied for adolescent-onset epilepsy syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (80):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 890
Download table as spreadsheet
HGVS dbSNP
NM_000086.2(CLN3):c.47-1G>A rs1555469477
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_000310.3(PPT1):c.529C>G (p.Gln177Glu) rs386833650
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000726.4(CACNB4):c.*1009C>T rs367723727
NM_000726.4(CACNB4):c.*1093T>C rs142139235
NM_000726.4(CACNB4):c.*1110C>A rs147608603
NM_000726.4(CACNB4):c.*1185T>C rs13410490
NM_000726.4(CACNB4):c.*1186G>T rs72868010
NM_000726.4(CACNB4):c.*1284T>G rs112989362
NM_000726.4(CACNB4):c.*1459T>C rs114958916
NM_000726.4(CACNB4):c.*1501del rs886054963
NM_000726.4(CACNB4):c.*1501dup rs886054963
NM_000726.4(CACNB4):c.*151del rs79470866
NM_000726.4(CACNB4):c.*151dup rs79470866
NM_000726.4(CACNB4):c.*1520del rs374745796
NM_000726.4(CACNB4):c.*1635T>C rs886054962
NM_000726.4(CACNB4):c.*1656T>C rs62174451
NM_000726.4(CACNB4):c.*1785G>A rs886054961
NM_000726.4(CACNB4):c.*1811C>A rs886054960
NM_000726.4(CACNB4):c.*1814G>A rs181447432
NM_000726.4(CACNB4):c.*1826A>G rs886054959
NM_000726.4(CACNB4):c.*1909C>T rs113319414
NM_000726.4(CACNB4):c.*1910_*1911del rs372743707
NM_000726.4(CACNB4):c.*1931T>C rs886054958
NM_000726.4(CACNB4):c.*1937T>G rs758893086
NM_000726.4(CACNB4):c.*1942T>C rs139629003
NM_000726.4(CACNB4):c.*1952C>A rs764877003
NM_000726.4(CACNB4):c.*2163G>A rs80306085
NM_000726.4(CACNB4):c.*2188T>G rs548234328
NM_000726.4(CACNB4):c.*2188del rs75297236
NM_000726.4(CACNB4):c.*2210A>G rs114341631
NM_000726.4(CACNB4):c.*2391T>G rs143821304
NM_000726.4(CACNB4):c.*2542G>A rs886054957
NM_000726.4(CACNB4):c.*2695G>T rs74894311
NM_000726.4(CACNB4):c.*2729G>A rs144329745
NM_000726.4(CACNB4):c.*2778A>C rs114659375
NM_000726.4(CACNB4):c.*2837A>G rs138327808
NM_000726.4(CACNB4):c.*2885T>C rs116457978
NM_000726.4(CACNB4):c.*2924T>C rs886054956
NM_000726.4(CACNB4):c.*3157T>A rs10497086
NM_000726.4(CACNB4):c.*3387C>G rs886054955
NM_000726.4(CACNB4):c.*3475A>T rs567549082
NM_000726.4(CACNB4):c.*3668T>C rs543493236
NM_000726.4(CACNB4):c.*3688G>A rs886054954
NM_000726.4(CACNB4):c.*3804G>C rs2344734
NM_000726.4(CACNB4):c.*4081G>A rs148903851
NM_000726.4(CACNB4):c.*4131A>G rs373381936
NM_000726.4(CACNB4):c.*4145T>C rs781255950
NM_000726.4(CACNB4):c.*442G>A rs7597215
NM_000726.4(CACNB4):c.*442_*443del rs886054966
NM_000726.4(CACNB4):c.*443A>G rs538829019
NM_000726.4(CACNB4):c.*454del rs879114509
NM_000726.4(CACNB4):c.*454dup rs879114509
NM_000726.4(CACNB4):c.*4569A>G rs778742650
NM_000726.4(CACNB4):c.*4570T>C rs549017506
NM_000726.4(CACNB4):c.*4771G>A rs80248494
NM_000726.4(CACNB4):c.*4773A>G rs113408437
NM_000726.4(CACNB4):c.*4845T>C rs886054953
NM_000726.4(CACNB4):c.*4919G>A rs763593694
NM_000726.4(CACNB4):c.*4969G>A rs537140595
NM_000726.4(CACNB4):c.*4976T>C rs191424720
NM_000726.4(CACNB4):c.*4T>C rs556761275
NM_000726.4(CACNB4):c.*5022A>G rs548177540
NM_000726.4(CACNB4):c.*5029T>C rs16830412
NM_000726.4(CACNB4):c.*5122C>T rs187940787
NM_000726.4(CACNB4):c.*528A>T rs111999910
NM_000726.4(CACNB4):c.*5372T>C rs150406641
NM_000726.4(CACNB4):c.*5385C>T rs1568673
NM_000726.4(CACNB4):c.*5418T>C rs886054952
NM_000726.4(CACNB4):c.*5433A>G rs563567053
NM_000726.4(CACNB4):c.*5487T>C rs111700454
NM_000726.4(CACNB4):c.*5562A>G rs192309143
NM_000726.4(CACNB4):c.*5622C>T rs187012852
NM_000726.4(CACNB4):c.*5855A>C rs118093432
NM_000726.4(CACNB4):c.*5863T>G rs886054951
NM_000726.4(CACNB4):c.*592T>C rs779110885
NM_000726.4(CACNB4):c.*5977G>T rs886054950
NM_000726.4(CACNB4):c.*5995dup rs886054949
NM_000726.4(CACNB4):c.*6140G>T rs74944346
NM_000726.4(CACNB4):c.*6183A>G rs185830609
NM_000726.4(CACNB4):c.*624A>T rs755272601
NM_000726.4(CACNB4):c.*624del rs11291336
NM_000726.4(CACNB4):c.*737C>T rs558590558
NM_000726.4(CACNB4):c.*787del rs560958457
NM_000726.4(CACNB4):c.*795T>G rs766545084
NM_000726.4(CACNB4):c.*865G>A rs75365487
NM_000726.4(CACNB4):c.*890G>C rs78697588
NM_000726.4(CACNB4):c.-25G>T rs143675846
NM_000726.4(CACNB4):c.-57G>T rs886054971
NM_000726.4(CACNB4):c.-70G>A rs183873853
NM_000726.4(CACNB4):c.1239G>A (p.Leu413=) rs1805028
NM_000726.4(CACNB4):c.1278T>C (p.Tyr426=) rs376015337
NM_000726.4(CACNB4):c.1303-3T>C rs143442080
NM_000726.4(CACNB4):c.1413G>A (p.Arg471=) rs1805029
NM_000726.4(CACNB4):c.177G>A (p.Pro59=) rs552093496
NM_000726.4(CACNB4):c.187G>C (p.Asp63His) rs886054969
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000726.4(CACNB4):c.337G>T (p.Val113Phe) rs886054968
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.521+9C>T rs747291810
NM_000726.4(CACNB4):c.599-15G>A rs41270209
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000726.4(CACNB4):c.64-4C>T rs886054970
NM_000726.4(CACNB4):c.642T>C (p.Asp214=) rs886054967
NM_000726.4(CACNB4):c.762T>A (p.Ile254=) rs61736804
NM_000726.4(CACNB4):c.8C>T (p.Ser3Phe) rs542973906
NM_000742.4(CHRNA2):c.1105dup (p.Ala369fs) rs757376257
NM_000806.5(GABRA1):c.*1319A>G rs886060367
NM_000806.5(GABRA1):c.*1443A>G rs575959204
NM_000806.5(GABRA1):c.*1512G>A rs886060368
NM_000806.5(GABRA1):c.*1526A>G rs540638714
NM_000806.5(GABRA1):c.*1601T>G rs886060369
NM_000806.5(GABRA1):c.*1659A>G rs886060370
NM_000806.5(GABRA1):c.*1837C>G rs886060371
NM_000806.5(GABRA1):c.*1971T>C rs886060372
NM_000806.5(GABRA1):c.*213C>T rs886060362
NM_000806.5(GABRA1):c.*2279G>A rs575186628
NM_000806.5(GABRA1):c.*2334C>T rs886060373
NM_000806.5(GABRA1):c.*302A>G rs886060364
NM_000806.5(GABRA1):c.*413G>A rs886060365
NM_000806.5(GABRA1):c.*771C>T rs886060366
NM_000806.5(GABRA1):c.-10C>G rs376699435
NM_000806.5(GABRA1):c.-117_-112GACTCG[3] rs527890421
NM_000806.5(GABRA1):c.-195A>G rs886060359
NM_000806.5(GABRA1):c.-220T>C rs186477194
NM_000806.5(GABRA1):c.-247-5T>C rs766490931
NM_000806.5(GABRA1):c.-248+8C>A rs886060358
NM_000806.5(GABRA1):c.-405T>C rs181962869
NM_000806.5(GABRA1):c.-438del rs112361424
NM_000806.5(GABRA1):c.-439A>G rs886060357
NM_000806.5(GABRA1):c.-441A>G rs11576001
NM_000806.5(GABRA1):c.-442dup rs201310567
NM_000806.5(GABRA1):c.-448G>A rs11576000
NM_000806.5(GABRA1):c.-448G>C rs11576000
NM_000806.5(GABRA1):c.-449G>C rs190043578
NM_000806.5(GABRA1):c.-455G>A rs531705924
NM_000806.5(GABRA1):c.1206C>T (p.Pro402=) rs541335259
NM_000806.5(GABRA1):c.1290A>G (p.Leu430=) rs886060361
NM_000806.5(GABRA1):c.74+9A>T rs41275339
NM_000806.5(GABRA1):c.856+11A>G rs564871157
NM_000806.5(GABRA1):c.954C>T (p.Ala318=) rs551045474
NM_001127644.2(GABRA1):c.*1061T>C rs374002978
NM_001127644.2(GABRA1):c.*1381T>C rs187522588
NM_001127644.2(GABRA1):c.*1506A>C rs998754
NM_001127644.2(GABRA1):c.*1752G>T rs41303356
NM_001127644.2(GABRA1):c.*1821T>G rs10059108
NM_001127644.2(GABRA1):c.*1929T>C rs2290733
NM_001127644.2(GABRA1):c.*2523A>C rs567624810
NM_001127644.2(GABRA1):c.*304del rs547262225
NM_001127644.2(GABRA1):c.*398A>C rs374845401
NM_001127644.2(GABRA1):c.*401G>A rs541504060
NM_001127644.2(GABRA1):c.*470A>G rs2290732
NM_001127644.2(GABRA1):c.-142A>G rs12658835
NM_001127644.2(GABRA1):c.-31C>T rs4608967
NM_001127644.2(GABRA1):c.-4C>T rs375475234
NM_001127644.2(GABRA1):c.1059+15G>A rs2279020
NM_001127644.2(GABRA1):c.1350A>G (p.Lys450=) rs142385746
NM_001127644.2(GABRA1):c.156T>C (p.Gly52=) rs1129647
NM_001127644.2(GABRA1):c.255+12C>T rs144727170
NM_001127644.2(GABRA1):c.477-14A>G rs757378039
NM_001127644.2(GABRA1):c.672A>G (p.Thr224=) rs372742479
NM_001127644.2(GABRA1):c.857-5T>C rs543710675
NM_001134407.3(GRIN2A):c.*1002C>T rs144997779
NM_001134407.3(GRIN2A):c.*1058T>A rs886052546
NM_001134407.3(GRIN2A):c.*1212C>T rs1014531
NM_001134407.3(GRIN2A):c.*121G>T rs75272984
NM_001134407.3(GRIN2A):c.*1385C>A rs113843373
NM_001134407.3(GRIN2A):c.*1432del rs569463295
NM_001134407.3(GRIN2A):c.*1463C>T rs567206005
NM_001134407.3(GRIN2A):c.*1474T>C rs144327233
NM_001134407.3(GRIN2A):c.*1535C>T rs886052545
NM_001134407.3(GRIN2A):c.*1539T>G rs886052544
NM_001134407.3(GRIN2A):c.*1684A>C rs117255813
NM_001134407.3(GRIN2A):c.*1806G>A rs886052543
NM_001134407.3(GRIN2A):c.*1998A>T rs886052542
NM_001134407.3(GRIN2A):c.*2017C>G rs112151383
NM_001134407.3(GRIN2A):c.*2053C>T rs775312419
NM_001134407.3(GRIN2A):c.*2210A>T rs148482120
NM_001134407.3(GRIN2A):c.*2236G>A rs147419689
NM_001134407.3(GRIN2A):c.*2396G>A rs113138480
NM_001134407.3(GRIN2A):c.*2509G>A rs530124672
NM_001134407.3(GRIN2A):c.*2544C>T rs766920527
NM_001134407.3(GRIN2A):c.*2556C>T rs886052541
NM_001134407.3(GRIN2A):c.*2617G>C rs62034910
NM_001134407.3(GRIN2A):c.*2622A>T rs886052540
NM_001134407.3(GRIN2A):c.*268G>A rs886052553
NM_001134407.3(GRIN2A):c.*2771_*2774dup rs35189803
NM_001134407.3(GRIN2A):c.*2773_*2774dup rs35189803
NM_001134407.3(GRIN2A):c.*2775_*2776insA rs886052539
NM_001134407.3(GRIN2A):c.*2803A>G rs16966263
NM_001134407.3(GRIN2A):c.*2835C>T rs886052538
NM_001134407.3(GRIN2A):c.*286A>G rs886052552
NM_001134407.3(GRIN2A):c.*2924A>C rs77580194
NM_001134407.3(GRIN2A):c.*2975G>A rs115979840
NM_001134407.3(GRIN2A):c.*3018G>C rs562770874
NM_001134407.3(GRIN2A):c.*3166C>T rs886052537
NM_001134407.3(GRIN2A):c.*3220C>T rs192984749
NM_001134407.3(GRIN2A):c.*3305C>A rs149492540
NM_001134407.3(GRIN2A):c.*3341T>C rs576585646
NM_001134407.3(GRIN2A):c.*3396T>G rs886052536
NM_001134407.3(GRIN2A):c.*3483C>T rs137977249
NM_001134407.3(GRIN2A):c.*3543G>C rs886052535
NM_001134407.3(GRIN2A):c.*3589G>A rs763658518
NM_001134407.3(GRIN2A):c.*3721T>C rs16966262
NM_001134407.3(GRIN2A):c.*3753C>G rs78426284
NM_001134407.3(GRIN2A):c.*39G>A rs141956850
NM_001134407.3(GRIN2A):c.*4036A>G rs9921182
NM_001134407.3(GRIN2A):c.*4207G>A rs747470370
NM_001134407.3(GRIN2A):c.*4251C>T rs537753852
NM_001134407.3(GRIN2A):c.*4281A>G rs570250938
NM_001134407.3(GRIN2A):c.*4304T>C rs79079877
NM_001134407.3(GRIN2A):c.*4739T>C rs111346223
NM_001134407.3(GRIN2A):c.*490G>A rs9937910
NM_001134407.3(GRIN2A):c.*4919C>T rs79849427
NM_001134407.3(GRIN2A):c.*5006G>A rs773012536
NM_001134407.3(GRIN2A):c.*5045T>A rs148967966
NM_001134407.3(GRIN2A):c.*5076G>C rs182876220
NM_001134407.3(GRIN2A):c.*5109G>C rs886052534
NM_001134407.3(GRIN2A):c.*5112C>T rs553874602
NM_001134407.3(GRIN2A):c.*5161C>T rs369083217
NM_001134407.3(GRIN2A):c.*525G>A rs11575877
NM_001134407.3(GRIN2A):c.*5365G>A rs554155423
NM_001134407.3(GRIN2A):c.*5423T>C rs570847684
NM_001134407.3(GRIN2A):c.*542_*544del rs760275969
NM_001134407.3(GRIN2A):c.*5447G>T rs145736101
NM_001134407.3(GRIN2A):c.*545G>C rs886052551
NM_001134407.3(GRIN2A):c.*5471T>C rs886052533
NM_001134407.3(GRIN2A):c.*5473G>A rs886052532
NM_001134407.3(GRIN2A):c.*5512T>C rs149933070
NM_001134407.3(GRIN2A):c.*5733C>T rs574207711
NM_001134407.3(GRIN2A):c.*5740A>C rs144545983
NM_001134407.3(GRIN2A):c.*574C>A rs886052550
NM_001134407.3(GRIN2A):c.*5775T>A rs9933772
NM_001134407.3(GRIN2A):c.*5775dup rs202247656
NM_001134407.3(GRIN2A):c.*5776A>T rs78296872
NM_001134407.3(GRIN2A):c.*5790del rs74985384
NM_001134407.3(GRIN2A):c.*5818C>T rs8044472
NM_001134407.3(GRIN2A):c.*5884G>A rs8045712
NM_001134407.3(GRIN2A):c.*5942G>A rs16966255
NM_001134407.3(GRIN2A):c.*5996C>T rs548588993
NM_001134407.3(GRIN2A):c.*6042A>C rs780823999
NM_001134407.3(GRIN2A):c.*6128A>G rs9933624
NM_001134407.3(GRIN2A):c.*6149C>G rs9940680
NM_001134407.3(GRIN2A):c.*6178T>C rs886052531
NM_001134407.3(GRIN2A):c.*6282T>A rs16966252
NM_001134407.3(GRIN2A):c.*6323C>T rs148431972
NM_001134407.3(GRIN2A):c.*6444G>A rs149410193
NM_001134407.3(GRIN2A):c.*6449G>T rs140145510
NM_001134407.3(GRIN2A):c.*6452G>A rs74011019
NM_001134407.3(GRIN2A):c.*6475T>A rs78377517
NM_001134407.3(GRIN2A):c.*650C>G rs886052549
NM_001134407.3(GRIN2A):c.*6545C>A rs59394706
NM_001134407.3(GRIN2A):c.*6596C>T rs375205206
NM_001134407.3(GRIN2A):c.*6597G>A rs115306961
NM_001134407.3(GRIN2A):c.*6599T>C rs886052530
NM_001134407.3(GRIN2A):c.*6601G>C rs565650930
NM_001134407.3(GRIN2A):c.*6609T>C rs1420040
NM_001134407.3(GRIN2A):c.*6659G>A rs886052529
NM_001134407.3(GRIN2A):c.*6661G>A rs185399319
NM_001134407.3(GRIN2A):c.*6760G>A rs886052528
NM_001134407.3(GRIN2A):c.*678G>A rs886052548
NM_001134407.3(GRIN2A):c.*6846C>T rs566418840
NM_001134407.3(GRIN2A):c.*6897del rs886052527
NM_001134407.3(GRIN2A):c.*6906T>G rs17791953
NM_001134407.3(GRIN2A):c.*6941C>T rs181271617
NM_001134407.3(GRIN2A):c.*6986A>G rs190006327
NM_001134407.3(GRIN2A):c.*7009_*7010CA[9] rs113553391
NM_001134407.3(GRIN2A):c.*7112A>C rs143274147
NM_001134407.3(GRIN2A):c.*7112A>T rs143274147
NM_001134407.3(GRIN2A):c.*7207G>A rs886052525
NM_001134407.3(GRIN2A):c.*722G>A rs569360567
NM_001134407.3(GRIN2A):c.*7278G>T rs886052524
NM_001134407.3(GRIN2A):c.*7289T>A rs868376839
NM_001134407.3(GRIN2A):c.*7293del rs58903398
NM_001134407.3(GRIN2A):c.*7324G>A rs16966244
NM_001134407.3(GRIN2A):c.*7349C>T rs191366035
NM_001134407.3(GRIN2A):c.*7379A>G rs886052522
NM_001134407.3(GRIN2A):c.*7483C>T rs551009533
NM_001134407.3(GRIN2A):c.*7650_*7654del rs537062402
NM_001134407.3(GRIN2A):c.*7775C>T rs886052521
NM_001134407.3(GRIN2A):c.*7897C>T rs886052520
NM_001134407.3(GRIN2A):c.*7898A>G rs530398129
NM_001134407.3(GRIN2A):c.*7982A>C rs766455387
NM_001134407.3(GRIN2A):c.*8077T>G rs16966243
NM_001134407.3(GRIN2A):c.*8156A>G rs886052519
NM_001134407.3(GRIN2A):c.*8359T>C rs886052518
NM_001134407.3(GRIN2A):c.*8396T>C rs192548671
NM_001134407.3(GRIN2A):c.*8398G>A rs886052517
NM_001134407.3(GRIN2A):c.*8535A>C rs767749
NM_001134407.3(GRIN2A):c.*8536_*8537insC rs59371229
NM_001134407.3(GRIN2A):c.*8542T>C rs886052516
NM_001134407.3(GRIN2A):c.*8609C>T rs760313721
NM_001134407.3(GRIN2A):c.*8626G>C rs886052515
NM_001134407.3(GRIN2A):c.*8753T>C rs182174522
NM_001134407.3(GRIN2A):c.*8781G>A rs886052514
NM_001134407.3(GRIN2A):c.*8978G>C rs79818496
NM_001134407.3(GRIN2A):c.*9207G>A rs886052513
NM_001134407.3(GRIN2A):c.*9278C>T rs139007678
NM_001134407.3(GRIN2A):c.*9325G>C rs117836220
NM_001134407.3(GRIN2A):c.*9517T>C rs16966242
NM_001134407.3(GRIN2A):c.*9632T>A rs114596802
NM_001134407.3(GRIN2A):c.*9692A>G rs58340432
NM_001134407.3(GRIN2A):c.*971C>A rs886052547
NM_001134407.3(GRIN2A):c.-220C>T rs139646156
NM_001134407.3(GRIN2A):c.-34C>A rs564039694
NM_001134407.3(GRIN2A):c.-34C>G rs564039694
NM_001134407.3(GRIN2A):c.1119A>G (p.Glu373=) rs368406915
NM_001134407.3(GRIN2A):c.1141C>T (p.His381Tyr) rs757464009
NM_001134407.3(GRIN2A):c.1263C>T (p.Asp421=) rs781215527
NM_001134407.3(GRIN2A):c.1275G>A (p.Leu425=) rs2229193
NM_001134407.3(GRIN2A):c.1317C>G (p.Phe439Leu) rs752012396
NM_001134407.3(GRIN2A):c.1329-8C>T rs7193290
NM_001134407.3(GRIN2A):c.1380C>T (p.Cys460=) rs375291296
NM_001134407.3(GRIN2A):c.1498-14_1498-13del rs1491547779
NM_001134407.3(GRIN2A):c.1652-13T>C rs201444481
NM_001134407.3(GRIN2A):c.2007+10C>T rs368110989
NM_001134407.3(GRIN2A):c.2085G>C (p.Arg695=) rs9806806
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382
NM_001134407.3(GRIN2A):c.225C>T (p.Asn75=) rs527686036
NM_001134407.3(GRIN2A):c.2478C>T (p.Ala826=) rs373628160
NM_001134407.3(GRIN2A):c.2497A>G (p.Ile833Val) rs774656858
NM_001134407.3(GRIN2A):c.2532G>A (p.Lys844=) rs754414929
NM_001134407.3(GRIN2A):c.2664G>A (p.Thr888=) rs113847665
NM_001134407.3(GRIN2A):c.2694C>T (p.Leu898=) rs569998469
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198
NM_001134407.3(GRIN2A):c.2899G>C (p.Val967Leu) rs61731465
NM_001134407.3(GRIN2A):c.3064C>T (p.Arg1022Cys) rs560057284
NM_001134407.3(GRIN2A):c.3138A>G (p.Leu1046=) rs773244936
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995
NM_001134407.3(GRIN2A):c.3246C>T (p.Thr1082=) rs143039009
NM_001134407.3(GRIN2A):c.3427G>A (p.Glu1143Lys) rs61758996
NM_001134407.3(GRIN2A):c.3561C>T (p.Tyr1187=) rs750802726
NM_001134407.3(GRIN2A):c.3622C>A (p.Arg1208=) rs78544202
NM_001134407.3(GRIN2A):c.3668C>G (p.Thr1223Ser) rs770966136
NM_001134407.3(GRIN2A):c.3678C>T (p.Gly1226=) rs749144109
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517
NM_001134407.3(GRIN2A):c.3809A>T (p.Asp1270Val) rs750649530
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.3884T>C (p.Ile1295Thr) rs757351084
NM_001134407.3(GRIN2A):c.3993C>A (p.Val1331=) rs886052554
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526
NM_001134407.3(GRIN2A):c.4356C>G (p.Arg1452=) rs140093291
NM_001134407.3(GRIN2A):c.568A>G (p.Thr190Ala) rs886051634
NM_001134407.3(GRIN2A):c.662A>G (p.Lys221Arg) rs61731464
NM_001134407.3(GRIN2A):c.747C>T (p.Thr249=) rs774169125
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725
NM_001134407.3(GRIN2A):c.83A>C (p.Glu28Ala) rs146839931
NM_001134407.3(GRIN2A):c.843C>T (p.Tyr281=) rs554338361
NM_001134407.3(GRIN2A):c.900C>T (p.Thr300=) rs143669998
NM_001134407.3(GRIN2A):c.903C>T (p.Thr301=) rs78241448
NM_001134407.3(GRIN2A):c.979C>G (p.Pro327Ala) rs771168389
NM_001161352.2(KCNMA1):c.*1006G>A rs200955430
NM_001161352.2(KCNMA1):c.*1022_*1025TTTG[1] rs755720081
NM_001161352.2(KCNMA1):c.*1025G>C rs886047263
NM_001161352.2(KCNMA1):c.*1100C>T rs199706896
NM_001161352.2(KCNMA1):c.*113dup rs144100057
NM_001161352.2(KCNMA1):c.*1165C>T rs886047262
NM_001161352.2(KCNMA1):c.*1202C>A rs200435801
NM_001161352.2(KCNMA1):c.*1243T>C rs141466507
NM_001161352.2(KCNMA1):c.*1284T>C rs200045921
NM_001161352.2(KCNMA1):c.*1288A>T rs78082918
NM_001161352.2(KCNMA1):c.*1571C>T rs10762733
NM_001161352.2(KCNMA1):c.*15G>A rs200873312
NM_001161352.2(KCNMA1):c.*1739G>T rs184468198
NM_001161352.2(KCNMA1):c.*1765T>C rs80189498
NM_001161352.2(KCNMA1):c.*1887G>A rs886047261
NM_001161352.2(KCNMA1):c.*1935A>G rs886047260
NM_001161352.2(KCNMA1):c.*1937T>G rs886047259
NM_001161352.2(KCNMA1):c.*1957C>T rs7073015
NM_001161352.2(KCNMA1):c.*2015_*2016TA[7] rs562756117
NM_001161352.2(KCNMA1):c.*2117G>T rs886047258
NM_001161352.2(KCNMA1):c.*2183C>T rs201067003
NM_001161352.2(KCNMA1):c.*2226A>G rs560236547
NM_001161352.2(KCNMA1):c.*223A>G rs886047267
NM_001161352.2(KCNMA1):c.*2278G>A rs886047257
NM_001161352.2(KCNMA1):c.*2325T>A rs41281548
NM_001161352.2(KCNMA1):c.*2373dup rs552322812
NM_001161352.2(KCNMA1):c.*321C>T rs7078702
NM_001161352.2(KCNMA1):c.*394C>A rs41281550
NM_001161352.2(KCNMA1):c.*411_*413GTT[4] rs879619415
NM_001161352.2(KCNMA1):c.*429_*432CTTT[2] rs886047266
NM_001161352.2(KCNMA1):c.*488C>A rs2116830
NM_001161352.2(KCNMA1):c.*497A>G rs200933957
NM_001161352.2(KCNMA1):c.*531C>T rs748726029
NM_001161352.2(KCNMA1):c.*539T>C rs886047265
NM_001161352.2(KCNMA1):c.*570T>C rs886047264
NM_001161352.2(KCNMA1):c.*634C>G rs74139846
NM_001161352.2(KCNMA1):c.*690C>A rs145289064
NM_001161352.2(KCNMA1):c.*834T>C rs543740279
NM_001161352.2(KCNMA1):c.*932G>T rs76644618
NM_001161352.2(KCNMA1):c.-101_-96dup rs545094311
NM_001161352.2(KCNMA1):c.-104_-96dup rs1555529241
NM_001161352.2(KCNMA1):c.-116_-114GGC[7] rs781056387
NM_001161352.2(KCNMA1):c.-25C>T rs373677230
NM_001161352.2(KCNMA1):c.-57G>T rs886047271
NM_001161352.2(KCNMA1):c.1131+13C>A rs886047268
NM_001161352.2(KCNMA1):c.1131+3dup rs545073914
NM_001161352.2(KCNMA1):c.117_119CTC[8] (p.Ser60dup) rs572827902
NM_001161352.2(KCNMA1):c.1209G>A (p.Ala403=) rs199572145
NM_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636
NM_001161352.2(KCNMA1):c.1407C>T (p.Ser469=) rs370862113
NM_001161352.2(KCNMA1):c.144_146TTC[3] (p.Ser60del) rs751901610
NM_001161352.2(KCNMA1):c.1486G>A (p.Ala496Thr) rs202213336
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619
NM_001161352.2(KCNMA1):c.1578G>T (p.Leu526=) rs74140280
NM_001161352.2(KCNMA1):c.15_16insAGC (p.Gly6_Gly7insSer) rs780558929
NM_001161352.2(KCNMA1):c.1749+11G>A rs116546993
NM_001161352.2(KCNMA1):c.182T>C (p.Val61Ala) rs200420124
NM_001161352.2(KCNMA1):c.2015+5G>C rs746586408
NM_001161352.2(KCNMA1):c.2015+7G>A rs78670694
NM_001161352.2(KCNMA1):c.2283G>A (p.Pro761=) rs377596790
NM_001161352.2(KCNMA1):c.2391T>C (p.Asp797=) rs77280228
NM_001161352.2(KCNMA1):c.2526C>T (p.Val842=) rs41274568
NM_001161352.2(KCNMA1):c.2547C>T (p.Asp849=) rs147369374
NM_001161352.2(KCNMA1):c.2565C>T (p.Ile855=) rs2229009
NM_001161352.2(KCNMA1):c.2710-8T>C rs78672251
NM_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834
NM_001161352.2(KCNMA1):c.31A>G (p.Ser11Gly) rs886047270
NM_001161352.2(KCNMA1):c.31_33AGC[1] (p.Ser12del) rs757636988
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138
NM_001161352.2(KCNMA1):c.3333G>A (p.Ala1111=) rs200045097
NM_001161352.2(KCNMA1):c.34A>G (p.Ser12Gly) rs77602559
NM_001161352.2(KCNMA1):c.49G>C (p.Gly17Arg) rs886047269
NM_001161352.2(KCNMA1):c.687C>T (p.Phe229=) rs1131824
NM_001161352.2(KCNMA1):c.884+15G>A rs200196183
NM_001161352.2(KCNMA1):c.89A>G (p.His30Arg) rs200474297
NM_001161352.2(KCNMA1):c.945C>T (p.Ala315=) rs79713097
NM_001308275.1(LGI1):c.-227T>C rs150194814
NM_001308275.1(LGI1):c.-280G>C rs74150339
NM_001308275.1(LGI1):c.-304C>T rs886047484
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_005025.4(SERPINI1):c.*172T>A rs886058170
NM_005025.4(SERPINI1):c.*197T>C rs532826558
NM_005025.4(SERPINI1):c.*256dupT rs547381979
NM_005025.4(SERPINI1):c.-214A>G rs145045884
NM_005025.4(SERPINI1):c.-239G>A rs9835352
NM_005025.4(SERPINI1):c.-283C>T rs886058167
NM_005025.4(SERPINI1):c.-335G>A rs886058166
NM_005025.4(SERPINI1):c.-396_-392GGAGC[3] rs886058165
NM_005025.4(SERPINI1):c.106C>A (p.Arg36Ser) rs61735306
NM_005025.4(SERPINI1):c.1183A>G (p.Met395Val) rs144637103
NM_005025.4(SERPINI1):c.161C>T (p.Ala54Val) rs769948709
NM_005025.4(SERPINI1):c.218G>A (p.Arg73His) rs139808176
NM_005025.4(SERPINI1):c.21C>G (p.Phe7Leu) rs33917740
NM_005025.4(SERPINI1):c.281C>T (p.Ser94Leu) rs781486255
NM_005025.4(SERPINI1):c.289G>A (p.Val97Ile) rs61750375
NM_005025.4(SERPINI1):c.404C>T (p.Ala135Val) rs746127233
NM_005025.4(SERPINI1):c.40A>G (p.Ser14Gly) rs61735307
NM_005025.4(SERPINI1):c.410A>G (p.Asn137Ser) rs886058168
NM_005025.4(SERPINI1):c.432T>C (p.Asn144=) rs140116256
NM_005025.4(SERPINI1):c.518A>G (p.Asp173Gly) rs61735309
NM_005025.4(SERPINI1):c.51A>G (p.Thr17=) rs34582040
NM_005025.4(SERPINI1):c.576G>A (p.Ser192=) rs2229697
NM_005025.4(SERPINI1):c.77T>C (p.Ile26Thr) rs146948408
NM_005025.4(SERPINI1):c.838G>A (p.Ala280Thr) rs55872908
NM_005025.4(SERPINI1):c.959C>G (p.Ala320Gly) rs886058169
NM_005097.4(LGI1):c.*215T>C rs17502662
NM_005097.4(LGI1):c.*323A>C rs767119123
NM_005097.4(LGI1):c.*338G>C rs182654305
NM_005097.4(LGI1):c.*59T>A rs886047488
NM_005097.4(LGI1):c.-168G>A rs879390887
NM_005097.4(LGI1):c.-66G>C rs886047485
NM_005097.4(LGI1):c.1125G>C (p.Ala375=) rs886047487
NM_005097.4(LGI1):c.1155A>C (p.Leu385=) rs202148793
NM_005097.4(LGI1):c.1336A>C (p.Ile446Leu) rs769204967
NM_005097.4(LGI1):c.135G>C (p.Val45=) rs768003944
NM_005097.4(LGI1):c.1392G>A (p.Ser464=) rs148804268
NM_005097.4(LGI1):c.345A>G (p.Pro115=) rs151104648
NM_005097.4(LGI1):c.818G>A (p.Arg273Gln) rs750249658
NM_005097.4(LGI1):c.838+11C>T rs886047486
NM_006493.2(CLN5):c.2T>C (p.Met1Thr) rs201615354
NM_007217.4(PDCD10):c.-438G>C rs546722173
NM_018100.3(EFHC1):c.-146_-145delGC rs796720054
NM_018100.3(EFHC1):c.-162C>T rs41273738
NM_018100.3(EFHC1):c.-195A>G rs2296196
NM_018100.4(EFHC1):c.*1024C>T rs372975445
NM_018100.4(EFHC1):c.*1025_*1026AT[12] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[13] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[14] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[19] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[20] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[21] rs59794069
NM_018100.4(EFHC1):c.*1025_*1026AT[9] rs59794069
NM_018100.4(EFHC1):c.*1045delinsATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1045delinsATATATATATATATATATATATATATATATATA rs886061633
NM_018100.4(EFHC1):c.*1064_*1065AC[4] rs886061634
NM_018100.4(EFHC1):c.*1180G>A rs4455668
NM_018100.4(EFHC1):c.*121C>A rs7757370
NM_018100.4(EFHC1):c.*1325dup rs35994917
NM_018100.4(EFHC1):c.*140C>T rs78906153
NM_018100.4(EFHC1):c.*1481_*1482TC[1] rs886061636
NM_018100.4(EFHC1):c.*1490C>A rs2397092
NM_018100.4(EFHC1):c.*1576C>A rs547537212
NM_018100.4(EFHC1):c.*1749_*1750insAC rs58779695
NM_018100.4(EFHC1):c.*1813dup rs201262358
NM_018100.4(EFHC1):c.*1876T>G rs148070071
NM_018100.4(EFHC1):c.*2023T>C rs886061638
NM_018100.4(EFHC1):c.*2164G>A rs59722297
NM_018100.4(EFHC1):c.*2211C>T rs753392817
NM_018100.4(EFHC1):c.*226A>G rs562067977
NM_018100.4(EFHC1):c.*233T>A rs538486876
NM_018100.4(EFHC1):c.*2419A>G rs9474228
NM_018100.4(EFHC1):c.*2430C>T rs749445189
NM_018100.4(EFHC1):c.*2913G>C rs886061639
NM_018100.4(EFHC1):c.*2972C>G rs9367485
NM_018100.4(EFHC1):c.*3144T>A rs3789772
NM_018100.4(EFHC1):c.*3192G>A rs3789771
NM_018100.4(EFHC1):c.*3406T>C rs6919266
NM_018100.4(EFHC1):c.*392A>C rs9463792
NM_018100.4(EFHC1):c.*527C>T rs540732861
NM_018100.4(EFHC1):c.*549_*550TA[3] rs886061631
NM_018100.4(EFHC1):c.*66C>G rs574373324
NM_018100.4(EFHC1):c.*681G>A rs560182875
NM_018100.4(EFHC1):c.*871C>G rs78956562
NM_018100.4(EFHC1):c.*881A>T rs6926242
NM_018100.4(EFHC1):c.*896C>T rs112311115
NM_018100.4(EFHC1):c.*957C>T rs761411516
NM_018100.4(EFHC1):c.*99T>A rs151292895
NM_018100.4(EFHC1):c.1194T>C (p.Phe398=) rs201946033
NM_018100.4(EFHC1):c.1197T>C (p.Ala399=) rs886061630
NM_018100.4(EFHC1):c.1265A>T (p.Tyr422Phe) rs750259384
NM_018100.4(EFHC1):c.1343T>C (p.Met448Thr) rs1266787
NM_018100.4(EFHC1):c.1370G>T (p.Arg457Leu) rs369468811
NM_018100.4(EFHC1):c.144C>T (p.Gly48=) rs372240827
NM_018100.4(EFHC1):c.1451A>G (p.Tyr484Cys) rs201261630
NM_018100.4(EFHC1):c.1557C>T (p.Asn519=) rs773385237
NM_018100.4(EFHC1):c.1587G>A (p.Ala529=) rs377227885
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018100.4(EFHC1):c.1765G>A (p.Glu589Lys) rs201197637
NM_018100.4(EFHC1):c.1812A>C (p.Glu604Asp) rs369503191
NM_018100.4(EFHC1):c.1855A>C (p.Ile619Leu) rs17851770
NM_018100.4(EFHC1):c.1895A>G (p.Tyr632Cys) rs770182350
NM_018100.4(EFHC1):c.346A>G (p.Arg116Gly) rs886061627
NM_018100.4(EFHC1):c.43A>G (p.Thr15Ala) rs750899949
NM_018100.4(EFHC1):c.475C>T (p.Arg159Trp) rs3804506
NM_018100.4(EFHC1):c.559G>A (p.Asp187Asn) rs148615781
NM_018100.4(EFHC1):c.573+10A>G rs9349626
NM_018100.4(EFHC1):c.629A>T (p.Asp210Val) rs73740379
NM_018100.4(EFHC1):c.64-5T>C rs201860746
NM_018100.4(EFHC1):c.666_671del (p.Lys222_Val224delinsAsn) rs886061628
NM_018100.4(EFHC1):c.779G>A (p.Arg260Gln) rs145754721
NM_018100.4(EFHC1):c.800A>G (p.Tyr267Cys) rs886061629
NM_018100.4(EFHC1):c.887G>A (p.Arg296His) rs115205076
NM_018100.4(EFHC1):c.90G>A (p.Thr30=) rs140429638
NM_020361.4(CPA6):c.-222_-220delGCT rs144013159
NM_020361.4(CPA6):c.-247C>A rs530580560
NM_020361.4(CPA6):c.-269G>A rs2553663
NM_020361.5(CPA6):c.*242T>C rs527673781
NM_020361.5(CPA6):c.*260A>C rs531558365
NM_020361.5(CPA6):c.*328A>G rs3395
NM_020361.5(CPA6):c.-11_-10del rs531326049
NM_020361.5(CPA6):c.-160del rs796925267
NM_020361.5(CPA6):c.-45C>A rs767794744
NM_020361.5(CPA6):c.-76T>G rs886063083
NM_020361.5(CPA6):c.1021A>G (p.Ile341Val) rs766177388
NM_020361.5(CPA6):c.1077G>A (p.Gln359=) rs143536122
NM_020361.5(CPA6):c.109T>C (p.Tyr37His) rs886063082
NM_020361.5(CPA6):c.1126+13C>T rs768409721
NM_020361.5(CPA6):c.1127-25_1127-24dup rs60236534
NM_020361.5(CPA6):c.1127-25dup rs60236534
NM_020361.5(CPA6):c.1288A>G (p.Met430Val) rs774898194
NM_020361.5(CPA6):c.133T>C (p.Phe45Leu) rs10957393
NM_020361.5(CPA6):c.318G>C (p.Lys106Asn) rs886063081
NM_020361.5(CPA6):c.326T>C (p.Ile109Thr) rs151119622
NM_020361.5(CPA6):c.383G>A (p.Arg128Gln) rs779117472
NM_020361.5(CPA6):c.491C>T (p.Ser164Phe) rs267601975
NM_020361.5(CPA6):c.505T>C (p.Tyr169His) rs201643526
NM_020361.5(CPA6):c.518C>G (p.Ser173Cys) rs17853192
NM_020361.5(CPA6):c.538G>A (p.Gly180Ser) rs886063080
NM_020361.5(CPA6):c.544C>T (p.Arg182Ter) rs773734224
NM_020361.5(CPA6):c.715A>G (p.Asn239Asp) rs886063079
NM_020361.5(CPA6):c.746A>G (p.Asn249Ser) rs17343819
NM_020361.5(CPA6):c.759G>A (p.Trp253Ter) rs139178030
NM_020361.5(CPA6):c.791G>A (p.Arg264His) rs752555064
NM_020361.5(CPA6):c.797G>T (p.Arg266Leu) rs140612122
NM_020361.5(CPA6):c.932G>A (p.Arg311Gln) rs143321447
NM_020361.5(CPA6):c.975A>G (p.Ala325=) rs138313759
NM_020361.5(CPA6):c.98A>G (p.Tyr33Cys) rs368736137
NM_152778.3(MFSD8):c.1040dup (p.Trp348fs) rs1560718555
NM_152778.3(MFSD8):c.1093C>T (p.Gln365Ter) rs904329013
NM_152778.3(MFSD8):c.161del (p.Ser54fs) rs1560764227
NM_152778.3(MFSD8):c.754+2T>A rs587778809
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_198586.3(NHLRC1):c.*237T>C rs73379118
NM_198586.3(NHLRC1):c.*248C>A rs182779486
NM_198586.3(NHLRC1):c.*248C>G rs182779486
NM_198586.3(NHLRC1):c.*276G>C rs11966748
NM_198586.3(NHLRC1):c.*320G>A rs79197160
NM_198586.3(NHLRC1):c.*326C>T rs369668171
NM_198586.3(NHLRC1):c.*332G>T rs140122442
NM_198586.3(NHLRC1):c.*336G>A rs10949482
NM_198586.3(NHLRC1):c.*344A>T rs147528518
NM_198586.3(NHLRC1):c.*358_*361del rs550375620
NM_198586.3(NHLRC1):c.*406A>G rs886061251
NM_198586.3(NHLRC1):c.*442G>C rs555214908
NM_198586.3(NHLRC1):c.*482C>G rs114713758
NM_198586.3(NHLRC1):c.*55G>C rs11966789
NM_198586.3(NHLRC1):c.*61C>A rs886061252
NM_198586.3(NHLRC1):c.*621T>A rs10949481
NM_198586.3(NHLRC1):c.*626C>T rs10949480
NM_198586.3(NHLRC1):c.*662C>G rs150615281
NM_198586.3(NHLRC1):c.*720T>C rs141863990
NM_198586.3(NHLRC1):c.*797A>G rs886061250
NM_198586.3(NHLRC1):c.*837G>A rs536257194
NM_198586.3(NHLRC1):c.*85T>A rs73379121
NM_198586.3(NHLRC1):c.*875T>A rs72839174
NM_198586.3(NHLRC1):c.*875T>C rs72839174
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582
NM_198586.3(NHLRC1):c.303G>T (p.Pro101=) rs187783545
NM_198586.3(NHLRC1):c.312T>C (p.His104=) rs115931931
NM_198586.3(NHLRC1):c.332C>T (p.Pro111Leu) rs10949483
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs) rs587776542
NM_198586.3(NHLRC1):c.541A>G (p.Thr181Ala) rs886061253
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.