ClinVar Miner

List of variants studied for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 567
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HGVS dbSNP
CSTB, 2-BP DEL, 2404TC
NC_000004.11:g.(?_77082846)_(77102274_?)dup
NC_000004.11:g.(?_77116840)_(77134716_?)dup
NC_000006.11:g.(?_145946811)_(146056654_?)del
NC_000006.11:g.(?_146007238)_(146007452_?)del
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NC_000021.8:g.(?_45194063)_(45196170_?)dup
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.-210CCCCGCCCCGCG(2_3)
NM_000100.3(CSTB):c.-210_-199(30_125)
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.10G>C (p.Gly4Arg) rs74315443
NM_000100.3(CSTB):c.10G>T (p.Gly4Trp) rs74315443
NM_000100.3(CSTB):c.121G>A (p.Val41Met) rs143153487
NM_000100.3(CSTB):c.125C>A (p.Ser42Ter) rs386833439
NM_000100.3(CSTB):c.12G>A (p.Gly4=) rs1555888494
NM_000100.3(CSTB):c.136C>T (p.Gln46Ter) rs545986367
NM_000100.3(CSTB):c.149G>A (p.Gly50Glu) rs312262708
NM_000100.3(CSTB):c.158A>G (p.Tyr53Cys)
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
NM_000100.3(CSTB):c.168+2_168+19del rs312262707
NM_000100.3(CSTB):c.168+2_168+21delinsAA rs864309482
NM_000100.3(CSTB):c.168G>A (p.Lys56=) rs386833440
NM_000100.3(CSTB):c.169-14C>T rs757593576
NM_000100.3(CSTB):c.169-2A>G rs386833441
NM_000100.3(CSTB):c.169G>A (p.Val57Met) rs796052394
NM_000100.3(CSTB):c.175G>A (p.Val59Ile)
NM_000100.3(CSTB):c.191T>G (p.Phe64Cys) rs1569005540
NM_000100.3(CSTB):c.193G>A (p.Val65Ile) rs570768038
NM_000100.3(CSTB):c.1_2insAT (p.Met1fs) rs1044894207
NM_000100.3(CSTB):c.200_203dup (p.Val69fs)
NM_000100.3(CSTB):c.202C>T (p.Arg68Ter) rs74315442
NM_000100.3(CSTB):c.203G>C (p.Arg68Pro) rs757707761
NM_000100.3(CSTB):c.212A>C (p.Gln71Pro) rs121909346
NM_000100.3(CSTB):c.214_215TC[2] (p.Leu73fs) rs796943858
NM_000100.3(CSTB):c.221C>T (p.Pro74Leu)
NM_000100.3(CSTB):c.27G>C (p.Thr9=) rs945357152
NM_000100.3(CSTB):c.28C>G (p.Gln10Glu) rs1399970116
NM_000100.3(CSTB):c.290A>G (p.Tyr97Cys) rs1186810947
NM_000100.3(CSTB):c.29A>C (p.Gln10Pro) rs569851503
NM_000100.3(CSTB):c.45G>A (p.Glu15=) rs1057521317
NM_000100.3(CSTB):c.54C>T (p.His18=) rs557717323
NM_000100.3(CSTB):c.55A>G (p.Ile19Val) rs1349028244
NM_000100.3(CSTB):c.64C>T (p.Gln22Ter) rs1569006250
NM_000100.3(CSTB):c.66G>A (p.Gln22=) rs386833443
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_001199107.2(TBC1D24):c.1079G>T (p.Arg360Leu) rs765965968
NM_004287.3(GOSR2):c.336+1G>A rs141554661
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.101A>G (p.Glu34Gly)
NM_004287.4(GOSR2):c.128A>G (p.Gln43Arg)
NM_004287.4(GOSR2):c.133T>C (p.Phe45Leu) rs1060500714
NM_004287.4(GOSR2):c.148C>T (p.Arg50Cys) rs143754727
NM_004287.4(GOSR2):c.154G>A (p.Glu52Lys)
NM_004287.4(GOSR2):c.17A>G (p.Gln6Arg) rs749270151
NM_004287.4(GOSR2):c.184A>T (p.Lys62Ter)
NM_004287.4(GOSR2):c.200G>A (p.Arg67Lys) rs197922
NM_004287.4(GOSR2):c.203+3A>G rs201423456
NM_004287.4(GOSR2):c.205C>A (p.Arg69=)
NM_004287.4(GOSR2):c.205C>T (p.Arg69Trp) rs770149230
NM_004287.4(GOSR2):c.22dup (p.Thr8fs) rs746855352
NM_004287.4(GOSR2):c.235C>T (p.His79Tyr) rs1568171907
NM_004287.4(GOSR2):c.246T>C (p.Thr82=) rs141380070
NM_004287.4(GOSR2):c.258C>G (p.Asn86Lys)
NM_004287.4(GOSR2):c.266A>G (p.His89Arg)
NM_004287.4(GOSR2):c.272G>A (p.Arg91His)
NM_004287.4(GOSR2):c.29+13C>T rs747791818
NM_004287.4(GOSR2):c.29+8C>T rs573306680
NM_004287.4(GOSR2):c.322A>C (p.Thr108Pro) rs138510884
NM_004287.4(GOSR2):c.331A>G (p.Thr111Ala)
NM_004287.4(GOSR2):c.336+9G>A rs200210055
NM_004287.4(GOSR2):c.337-2A>G rs1568177307
NM_004287.4(GOSR2):c.350C>T (p.Thr117Ile)
NM_004287.4(GOSR2):c.358A>G (p.Met120Val) rs769454681
NM_004287.4(GOSR2):c.363C>T (p.Asp121=) rs886053078
NM_004287.4(GOSR2):c.369A>G (p.Ser123=) rs150381512
NM_004287.4(GOSR2):c.404A>G (p.Asn135Ser) rs765513191
NM_004287.4(GOSR2):c.405C>T (p.Asn135=) rs753166413
NM_004287.4(GOSR2):c.40G>A (p.Glu14Lys) rs113817924
NM_004287.4(GOSR2):c.447T>C (p.Asp149=) rs750298260
NM_004287.4(GOSR2):c.47A>C (p.Gln16Pro)
NM_004287.4(GOSR2):c.509A>G (p.Asn170Ser) rs150907052
NM_004287.4(GOSR2):c.541C>G (p.Leu181Val) rs772342696
NM_004287.4(GOSR2):c.557_584del (p.Ala186fs) rs796052541
NM_004287.4(GOSR2):c.57G>A (p.Met19Ile) rs369247929
NM_004287.4(GOSR2):c.619G>A (p.Val207Met) rs780839289
NM_004287.4(GOSR2):c.636A>G (p.Thr212=) rs990159762
NM_004287.4(GOSR2):c.637T>C (p.Ter213Arg)
NM_004287.4(GOSR2):c.68A>G (p.Glu23Gly) rs200071814
NM_004287.4(GOSR2):c.71C>T (p.Thr24Met)
NM_004287.4(GOSR2):c.72G>A (p.Thr24=) rs145772886
NM_004287.4(GOSR2):c.77A>G (p.Asp26Gly) rs773543394
NM_004287.4(GOSR2):c.7C>A (p.Pro3Thr) rs12944167
NM_004287.4(GOSR2):c.95-6G>T rs1345182096
NM_004287.4(GOSR2):c.99A>G (p.Val33=) rs1555709339
NM_005506.4(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005506.4(SCARB2):c.1057A>G (p.Ile353Val)
NM_005506.4(SCARB2):c.1067T>C (p.Met356Thr)
NM_005506.4(SCARB2):c.1136C>T (p.Ala379Val) rs144147706
NM_005506.4(SCARB2):c.117G>A (p.Lys39=)
NM_005506.4(SCARB2):c.1186G>A (p.Val396Ile) rs2228380
NM_005506.4(SCARB2):c.1188-5T>C rs775387526
NM_005506.4(SCARB2):c.1194G>A (p.Thr398=) rs574498998
NM_005506.4(SCARB2):c.11G>A (p.Cys4Tyr) rs1196467385
NM_005506.4(SCARB2):c.1210A>G (p.Met404Val)
NM_005506.4(SCARB2):c.1229A>T (p.Tyr410Phe) rs777270813
NM_005506.4(SCARB2):c.1235A>G (p.Asn412Ser) rs771661901
NM_005506.4(SCARB2):c.1239+8C>G rs369265725
NM_005506.4(SCARB2):c.1262C>T (p.Thr421Met) rs149474488
NM_005506.4(SCARB2):c.1265C>T (p.Ala422Val) rs756606813
NM_005506.4(SCARB2):c.1271G>A (p.Arg424Gln) rs751827409
NM_005506.4(SCARB2):c.1302C>G (p.Ile434Met)
NM_005506.4(SCARB2):c.1327A>G (p.Met443Val)
NM_005506.4(SCARB2):c.1328T>C (p.Met443Thr) rs141250135
NM_005506.4(SCARB2):c.1373G>T (p.Cys458Phe)
NM_005506.4(SCARB2):c.1382_1383del (p.Gln461fs) rs1233094134
NM_005506.4(SCARB2):c.1407G>A (p.Ala469=) rs144878666
NM_005506.4(SCARB2):c.1412A>T (p.Glu471Val)
NM_005506.4(SCARB2):c.171T>C (p.Pro57=) rs199895330
NM_005506.4(SCARB2):c.194A>G (p.Tyr65Cys) rs138955932
NM_005506.4(SCARB2):c.223A>T (p.Ile75Phe) rs1560716099
NM_005506.4(SCARB2):c.228C>T (p.Leu76=) rs35069772
NM_005506.4(SCARB2):c.244C>T (p.Arg82Trp) rs142690468
NM_005506.4(SCARB2):c.246G>C (p.Arg82=) rs35035064
NM_005506.4(SCARB2):c.276-7C>G rs200507087
NM_005506.4(SCARB2):c.277G>A (p.Glu93Lys) rs145870223
NM_005506.4(SCARB2):c.280C>T (p.Leu94Phe) rs752416481
NM_005506.4(SCARB2):c.303A>G (p.Gln101=) rs1242165140
NM_005506.4(SCARB2):c.33G>T (p.Thr11=) rs774721226
NM_005506.4(SCARB2):c.361C>T (p.Arg121Ter) rs200053119
NM_005506.4(SCARB2):c.362G>A (p.Arg121Gln) rs73826386
NM_005506.4(SCARB2):c.379G>T (p.Asp127Tyr) rs148022786
NM_005506.4(SCARB2):c.381C>G (p.Asp127Glu) rs1553948511
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324
NM_005506.4(SCARB2):c.382C>T (p.Pro128Ser) rs143558324
NM_005506.4(SCARB2):c.424-4G>A rs368869126
NM_005506.4(SCARB2):c.424-5C>T rs192876326
NM_005506.4(SCARB2):c.443A>G (p.Gln148Arg) rs1560710284
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813
NM_005506.4(SCARB2):c.463A>G (p.Ile155Val) rs772434203
NM_005506.4(SCARB2):c.475A>G (p.Met159Val) rs143655258
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519
NM_005506.4(SCARB2):c.48G>C (p.Leu16=) rs72857097
NM_005506.4(SCARB2):c.515C>T (p.Thr172Ile)
NM_005506.4(SCARB2):c.567T>C (p.His189=) rs141208366
NM_005506.4(SCARB2):c.580G>A (p.Asp194Asn) rs773017713
NM_005506.4(SCARB2):c.638A>T (p.Tyr213Phe) rs751953388
NM_005506.4(SCARB2):c.690A>G (p.Glu230=) rs957776724
NM_005506.4(SCARB2):c.705-7A>G
NM_005506.4(SCARB2):c.746A>G (p.Asn249Ser) rs199837910
NM_005506.4(SCARB2):c.752C>T (p.Thr251Ile) rs1553948166
NM_005506.4(SCARB2):c.80G>A (p.Arg27Gln) rs368906199
NM_005506.4(SCARB2):c.825-3C>T
NM_005506.4(SCARB2):c.851A>C (p.Tyr284Ser) rs149997095
NM_005506.4(SCARB2):c.869T>A (p.Leu290Gln) rs1553948019
NM_005506.4(SCARB2):c.903A>G (p.Ile301Met) rs1485497925
NM_005506.4(SCARB2):c.911A>G (p.Asn304Ser) rs150870503
NM_005506.4(SCARB2):c.915G>A (p.Thr305=) rs762138695
NM_005506.4(SCARB2):c.919G>A (p.Asp307Asn) rs142392473
NM_005506.4(SCARB2):c.962C>T (p.Ser321Leu) rs1553947990
NM_005506.4(SCARB2):c.9A>G (p.Arg3=) rs148558907
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183
NM_005670.4(EPM2A):c.136G>A (p.Ala46Thr) rs374338349
NM_005670.4(EPM2A):c.136G>C (p.Ala46Pro) rs374338349
NM_005670.4(EPM2A):c.143G>A (p.Gly48Asp) rs946076987
NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg) rs753397854
NM_005670.4(EPM2A):c.157G>A (p.Ala53Thr) rs763719276
NM_005670.4(EPM2A):c.163C>A (p.Gln55Lys) rs187930476
NM_005670.4(EPM2A):c.170C>T (p.Pro57Leu) rs1229724993
NM_005670.4(EPM2A):c.171G>T (p.Pro57=) rs531330673
NM_005670.4(EPM2A):c.206_207delinsGC (p.Glu69Gly)
NM_005670.4(EPM2A):c.208G>C (p.Glu70Gln) rs550455609
NM_005670.4(EPM2A):c.210G>A (p.Glu70=) rs878854780
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256
NM_005670.4(EPM2A):c.241G>A (p.Val81Met) rs747386643
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938
NM_005670.4(EPM2A):c.272G>A (p.Arg91Gln)
NM_005670.4(EPM2A):c.304A>G (p.Asn102Asp)
NM_005670.4(EPM2A):c.31C>T (p.Pro11Ser)
NM_005670.4(EPM2A):c.323G>A (p.Arg108His) rs202234583
NM_005670.4(EPM2A):c.332C>G (p.Thr111Ser) rs1480939817
NM_005670.4(EPM2A):c.345C>T (p.Asn115=) rs764231649
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val) rs150452237
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155
NM_005670.4(EPM2A):c.410A>G (p.Asn137Ser) rs61757376
NM_005670.4(EPM2A):c.427A>G (p.Thr143Ala)
NM_005670.4(EPM2A):c.446T>C (p.Ile149Thr) rs796052430
NM_005670.4(EPM2A):c.488A>G (p.Asn163Ser) rs141919651
NM_005670.4(EPM2A):c.490A>G (p.Ile164Val)
NM_005670.4(EPM2A):c.495G>A (p.Trp165Ter) rs781291421
NM_005670.4(EPM2A):c.495G>T (p.Trp165Cys)
NM_005670.4(EPM2A):c.4_39del (p.Arg2_Val13del)
NM_005670.4(EPM2A):c.512G>A (p.Arg171His) rs137852916
NM_005670.4(EPM2A):c.569T>A (p.Met190Lys) rs191406622
NM_005670.4(EPM2A):c.600G>T (p.Gln200His) rs142658692
NM_005670.4(EPM2A):c.631C>A (p.Pro211Thr)
NM_005670.4(EPM2A):c.632C>T (p.Pro211Leu)
NM_005670.4(EPM2A):c.640C>G (p.Pro214Ala) rs1278542056
NM_005670.4(EPM2A):c.644A>T (p.Asp215Val) rs144565191
NM_005670.4(EPM2A):c.67G>C (p.Val23Leu) rs1060503233
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860
NM_005670.4(EPM2A):c.681C>T (p.Ala227=) rs61758156
NM_005670.4(EPM2A):c.701C>A (p.Pro234Gln) rs1554256976
NM_005670.4(EPM2A):c.706A>G (p.Met236Val) rs906096146
NM_005670.4(EPM2A):c.70G>C (p.Gly24Arg) rs1554269710
NM_005670.4(EPM2A):c.719-2A>T rs772082648
NM_005670.4(EPM2A):c.719-4G>A rs145030227
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088
NM_005670.4(EPM2A):c.731T>G (p.Met244Arg)
NM_005670.4(EPM2A):c.743C>T (p.Ala248Val) rs374043005
NM_005670.4(EPM2A):c.745G>T (p.Val249Leu) rs1387516050
NM_005670.4(EPM2A):c.758A>T (p.His253Leu)
NM_005670.4(EPM2A):c.776G>A (p.Gly259Glu) rs200641543
NM_005670.4(EPM2A):c.77G>T (p.Arg26Leu) rs796052433
NM_005670.4(EPM2A):c.815G>A (p.Arg272His) rs958366800
NM_005670.4(EPM2A):c.825G>A (p.Ala275=) rs762115387
NM_005670.4(EPM2A):c.848A>G (p.Tyr283Cys) rs897601301
NM_005670.4(EPM2A):c.849T>C (p.Tyr283=) rs142027344
NM_005670.4(EPM2A):c.876G>A (p.Val292=) rs774234576
NM_005670.4(EPM2A):c.903G>C (p.Pro301=) rs141361861
NM_005670.4(EPM2A):c.904G>A (p.Ala302Thr) rs755742563
NM_005670.4(EPM2A):c.919G>A (p.Glu307Lys)
NM_005670.4(EPM2A):c.92G>A (p.Arg31His) rs1562535536
NM_005670.4(EPM2A):c.94T>A (p.Trp32Arg)
NM_005670.4(EPM2A):c.975T>C (p.Arg325=) rs370469632
NM_005670.4(EPM2A):c.979T>C (p.Ser327Pro) rs768781694
NM_005670.4(EPM2A):c.986G>A (p.Cys329Tyr)
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.1004G>A (p.Arg335Gln) rs757911190
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)
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.113C>T (p.Pro38Leu) rs145493619
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294
NM_153026.3(PRICKLE1):c.1176T>C (p.Phe392=) rs571386763
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr) rs774422189
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) rs1555230922
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr)
NM_153026.3(PRICKLE1):c.1413_1414delinsTC (p.Met471_Tyr472delinsIleHis) rs1060502985
NM_153026.3(PRICKLE1):c.1414T>C (p.Tyr472His) rs281865564
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) rs936545109
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) rs150766064
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) rs1437950772
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) rs763169354
NM_153026.3(PRICKLE1):c.1639+15G>T rs778854960
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953
NM_153026.3(PRICKLE1):c.1640-7C>T rs1555229472
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met) rs760050261
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) rs1055556905
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly)
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.1989T>C (p.Phe663=) rs1555229340
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) rs1555229335
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) rs781672373
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) rs1555229289
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp)
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042
NM_153026.3(PRICKLE1):c.2212A>G (p.Thr738Ala) rs886049375
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
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.2269G>A (p.Glu757Lys) rs145860632
NM_153026.3(PRICKLE1):c.2272_2274GAT[2] (p.Asp760del) rs557205452
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) rs143240342
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) rs1239945627
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His)
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser) rs751446088
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.3(PRICKLE1):c.249A>G (p.Val83=) rs763029790
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131
NM_153026.3(PRICKLE1):c.276G>A (p.Glu92=) rs1555230725
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
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.391T>G (p.Leu131Val) rs35731866
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) rs200558941
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=) rs746728526
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=) rs1060504780
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met)
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys)
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.3(PRICKLE1):c.588+5A>C
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) rs1443820017
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu) rs1566087431
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) rs1566082169
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153026.3(PRICKLE1):c.776G>A (p.Gly259Asp) rs1555230194
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153026.3(PRICKLE1):c.853A>C (p.Lys285Gln) rs1555230175
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=) rs537302175
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met)
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552
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
Single allele

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