ClinVar Miner

List of variants studied for Unverricht-Lundborg syndrome by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 298
Download table as spreadsheet
HGVS dbSNP
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.121G>A (p.Val41Met) rs143153487
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.158A>G (p.Tyr53Cys)
NM_000100.3(CSTB):c.15G>T (p.Ala5=) rs4533
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.203G>C (p.Arg68Pro) rs757707761
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.67-1G>C rs147484110
NM_000100.3(CSTB):c.67-3T>C rs6383
NM_004287.3(GOSR2):c.336+1G>A rs141554661
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.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.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+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.369A>G (p.Ser123=) rs150381512
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.1004G>A (p.Arg335Gln) rs757911190
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)
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.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.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+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.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.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.2216C>T (p.Ser739Phe) rs138452760
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
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.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.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

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.