ClinVar Miner

List of variants in gene PRICKLE1 studied for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 394
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.03104
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729 0.00598
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013 0.00149
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321 0.00039
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511 0.00022
NM_153026.3(PRICKLE1):c.775+20G>A rs190710237 0.00021
NM_153026.3(PRICKLE1):c.246+11A>T rs138597448 0.00017
NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=) rs144062651 0.00016
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494 0.00014
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593 0.00013
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131 0.00012
NM_153026.3(PRICKLE1):c.1412T>C (p.Met471Thr) rs777597253 0.00011
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219 0.00011
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 0.00011
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485 0.00011
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820 0.00011
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619 0.00010
NM_153026.3(PRICKLE1):c.399A>C (p.Ile133=) rs775864936 0.00010
NM_153026.3(PRICKLE1):c.189C>T (p.Pro63=) rs750059541 0.00009
NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=) rs570186739 0.00009
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) rs143240342 0.00009
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979 0.00008
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042 0.00007
NM_153026.3(PRICKLE1):c.*594_*595del rs769616581 0.00006
NM_153026.3(PRICKLE1):c.-279_-277dup rs886049380 0.00006
NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=) rs376123082 0.00006
NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu) rs781019264 0.00006
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=) rs748556304 0.00006
NM_153026.3(PRICKLE1):c.1772G>C (p.Ser591Thr) rs778075325 0.00006
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr) rs141795695 0.00006
NM_153026.3(PRICKLE1):c.2081A>G (p.Lys694Arg) rs750904030 0.00006
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749 0.00006
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 0.00006
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062 0.00005
NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu) rs146199468 0.00005
NM_153026.3(PRICKLE1):c.1613A>C (p.Asp538Ala) rs764577468 0.00005
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443 0.00005
NM_153026.3(PRICKLE1):c.446T>C (p.Val149Ala) rs528557291 0.00005
NM_153026.3(PRICKLE1):c.588+18C>T rs777295798 0.00005
NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile) rs374333566 0.00004
NM_153026.3(PRICKLE1):c.1646C>T (p.Ser549Leu) rs370892022 0.00004
NM_153026.3(PRICKLE1):c.1942C>G (p.Arg648Gly) rs370129051 0.00004
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717 0.00004
NM_153026.3(PRICKLE1):c.2044C>T (p.Arg682Cys) rs768954477 0.00004
NM_153026.3(PRICKLE1):c.2487T>C (p.Ile829=) rs376858650 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383 0.00004
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504 0.00004
NM_153026.3(PRICKLE1):c.*614G>A rs886049372 0.00003
NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser) rs748766846 0.00003
NM_153026.3(PRICKLE1):c.1648G>A (p.Val550Met) rs760050261 0.00003
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708 0.00003
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=) rs150809651 0.00003
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) rs769599129 0.00003
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) rs377294908 0.00003
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=) rs756787066 0.00003
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser) rs370967125 0.00003
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=) rs148989635 0.00003
NM_153026.3(PRICKLE1):c.2425C>G (p.Gln809Glu) rs142613488 0.00003
NM_153026.3(PRICKLE1):c.424G>A (p.Ala142Thr) rs1060502984 0.00003
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839 0.00003
NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=) rs755994241 0.00003
NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys) rs372213429 0.00003
NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn) rs773422113 0.00002
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=) rs772484365 0.00002
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609 0.00002
NM_153026.3(PRICKLE1):c.1639+4C>T rs746747159 0.00002
NM_153026.3(PRICKLE1):c.1779G>T (p.Glu593Asp) rs890912439 0.00002
NM_153026.3(PRICKLE1):c.178G>A (p.Val60Ile) rs1359965296 0.00002
NM_153026.3(PRICKLE1):c.1833G>C (p.Glu611Asp) rs749854195 0.00002
NM_153026.3(PRICKLE1):c.1978G>A (p.Val660Ile) rs143947284 0.00002
NM_153026.3(PRICKLE1):c.2104C>T (p.Arg702Trp) rs751021008 0.00002
NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys) rs750226436 0.00002
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His) rs201705679 0.00002
NM_153026.3(PRICKLE1):c.434C>T (p.Ala145Val) rs765119777 0.00002
NM_153026.3(PRICKLE1):c.447G>A (p.Val149=) rs561240990 0.00002
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) rs758400992 0.00002
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=) rs764986581 0.00002
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236 0.00001
NM_153026.3(PRICKLE1):c.124C>T (p.Pro42Ser) rs758787019 0.00001
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526 0.00001
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296 0.00001
NM_153026.3(PRICKLE1):c.1341C>T (p.Asn447=) rs759563559 0.00001
NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu) rs776727562 0.00001
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) rs780931107 0.00001
NM_153026.3(PRICKLE1):c.1406C>G (p.Ser469Cys) rs751326939 0.00001
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626 0.00001
NM_153026.3(PRICKLE1):c.1438C>G (p.Leu480Val) rs552840971 0.00001
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) rs1555229983 0.00001
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=) rs760731193 0.00001
NM_153026.3(PRICKLE1):c.1477A>C (p.Ser493Arg) rs547914367 0.00001
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=) rs774825872 0.00001
NM_153026.3(PRICKLE1):c.1505T>G (p.Leu502Arg) rs768870075 0.00001
NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg) rs201054946 0.00001
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr) rs796052932 0.00001
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr) rs1265886356 0.00001
NM_153026.3(PRICKLE1):c.1607C>T (p.Ser536Leu) rs150766064 0.00001
NM_153026.3(PRICKLE1):c.1609A>G (p.Met537Val) rs1437950772 0.00001
NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser) rs1361111517 0.00001
NM_153026.3(PRICKLE1):c.1639+15G>T rs778854960 0.00001
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953 0.00001
NM_153026.3(PRICKLE1):c.163G>A (p.Glu55Lys) rs1938269718 0.00001
NM_153026.3(PRICKLE1):c.1640-7C>T rs1555229472 0.00001
NM_153026.3(PRICKLE1):c.1681T>C (p.Tyr561His) rs1232951000 0.00001
NM_153026.3(PRICKLE1):c.1770G>A (p.Arg590=) rs1212454052 0.00001
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609 0.00001
NM_153026.3(PRICKLE1):c.1919A>G (p.Asn640Ser) rs139937830 0.00001
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) rs374621616 0.00001
NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=) rs766992928 0.00001
NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val) rs1194478107 0.00001
NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=) rs1405666356 0.00001
NM_153026.3(PRICKLE1):c.2021G>C (p.Arg674Pro) rs748173327 0.00001
NM_153026.3(PRICKLE1):c.2024G>A (p.Arg675His) rs1233536174 0.00001
NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His) rs189093086 0.00001
NM_153026.3(PRICKLE1):c.2120A>G (p.Asp707Gly) rs1937758569 0.00001
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp) rs746199700 0.00001
NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln) rs779059953 0.00001
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265 0.00001
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067 0.00001
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys) rs567656128 0.00001
NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln) rs1323129125 0.00001
NM_153026.3(PRICKLE1):c.2276A>G (p.Asp759Gly) rs778196919 0.00001
NM_153026.3(PRICKLE1):c.2311G>A (p.Asp771Asn) rs146670726 0.00001
NM_153026.3(PRICKLE1):c.2359C>T (p.Arg787Trp) rs765199745 0.00001
NM_153026.3(PRICKLE1):c.241A>C (p.Asn81His) rs796052934 0.00001
NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr) rs780823369 0.00001
NM_153026.3(PRICKLE1):c.2431G>A (p.Gly811Ser) rs751446088 0.00001
NM_153026.3(PRICKLE1):c.2446A>G (p.Lys816Glu) rs1304426627 0.00001
NM_153026.3(PRICKLE1):c.2465G>T (p.Gly822Val) rs1371533275 0.00001
NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=) rs1937730741 0.00001
NM_153026.3(PRICKLE1):c.352T>C (p.Ser118Pro) rs755590703 0.00001
NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr) rs961991320 0.00001
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=) rs1162360044 0.00001
NM_153026.3(PRICKLE1):c.384+17C>G rs752636804 0.00001
NM_153026.3(PRICKLE1):c.385-20T>G rs898970641 0.00001
NM_153026.3(PRICKLE1):c.400A>C (p.Asn134His) rs200558941 0.00001
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=) rs746728526 0.00001
NM_153026.3(PRICKLE1):c.428C>T (p.Ser143Phe) rs758143303 0.00001
NM_153026.3(PRICKLE1):c.43G>A (p.Gly15Ser) rs1258793726 0.00001
NM_153026.3(PRICKLE1):c.445G>A (p.Val149Met) rs751791144 0.00001
NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met) rs777277493 0.00001
NM_153026.3(PRICKLE1):c.50A>C (p.Gln17Pro) rs771838146 0.00001
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn) rs1300341380 0.00001
NM_153026.3(PRICKLE1):c.604G>A (p.Glu202Lys) rs1486749442 0.00001
NM_153026.3(PRICKLE1):c.641A>C (p.Lys214Thr) rs1178731670 0.00001
NM_153026.3(PRICKLE1):c.656T>C (p.Leu219Pro) rs1469737110 0.00001
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148 0.00001
NM_153026.3(PRICKLE1):c.669G>A (p.Thr223=) rs201394996 0.00001
NM_153026.3(PRICKLE1):c.699G>T (p.Lys233Asn) rs1443820017 0.00001
NM_153026.3(PRICKLE1):c.702C>T (p.Asp234=) rs1054457480 0.00001
NM_153026.3(PRICKLE1):c.720T>C (p.Cys240=) rs374695088 0.00001
NM_153026.3(PRICKLE1):c.739T>C (p.Tyr247His) rs780974681 0.00001
NC_000012.11:g.(?_42853611)_(42854487_?)dup
NC_000012.11:g.(?_42853611)_(42866318_?)del
NC_000012.11:g.(?_42853611)_(42866318_?)dup
NC_000012.11:g.(?_42862785)_(42864169_?)del
NM_153026.3(PRICKLE1):c.*142G>A rs886049374
NM_153026.3(PRICKLE1):c.*552del rs68074167
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3] rs561368128
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val) rs139176541
NM_153026.3(PRICKLE1):c.108C>G (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.10G>A (p.Glu4Lys)
NM_153026.3(PRICKLE1):c.1271A>G (p.Asp424Gly) rs1938019653
NM_153026.3(PRICKLE1):c.1276A>G (p.Ser426Gly)
NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)
NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser) rs1311851345
NM_153026.3(PRICKLE1):c.128A>G (p.Glu43Gly) rs1938359399
NM_153026.3(PRICKLE1):c.1299T>A (p.Asn433Lys)
NM_153026.3(PRICKLE1):c.1302G>T (p.Glu434Asp)
NM_153026.3(PRICKLE1):c.1304T>C (p.Met435Thr)
NM_153026.3(PRICKLE1):c.1311T>C (p.Ile437=) rs1938016409
NM_153026.3(PRICKLE1):c.1313G>C (p.Arg438Pro) rs1306531699
NM_153026.3(PRICKLE1):c.132+18C>T
NM_153026.3(PRICKLE1):c.132+20A>G
NM_153026.3(PRICKLE1):c.132+20del
NM_153026.3(PRICKLE1):c.132+3dup
NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=)
NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg) rs767486612
NM_153026.3(PRICKLE1):c.133-5del rs1009731020
NM_153026.3(PRICKLE1):c.133-7_133-5del rs1009731020
NM_153026.3(PRICKLE1):c.133-9C>G
NM_153026.3(PRICKLE1):c.1330A>G (p.Ile444Val) rs146199468
NM_153026.3(PRICKLE1):c.1345G>T (p.Val449Phe)
NM_153026.3(PRICKLE1):c.1346T>C (p.Val449Ala)
NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=)
NM_153026.3(PRICKLE1):c.139del (p.Leu47fs) rs1555230922
NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=)
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.1424A>G (p.Gln475Arg)
NM_153026.3(PRICKLE1):c.1425G>T (p.Gln475His) rs1938007089
NM_153026.3(PRICKLE1):c.1440G>C (p.Leu480=) rs367822804
NM_153026.3(PRICKLE1):c.1470C>A (p.Gly490=) rs1213762995
NM_153026.3(PRICKLE1):c.1474G>A (p.Ala492Thr) rs2140100316
NM_153026.3(PRICKLE1):c.14T>C (p.Met5Thr)
NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg) rs1937999932
NM_153026.3(PRICKLE1):c.1533T>C (p.His511=) rs1937999651
NM_153026.3(PRICKLE1):c.1543C>T (p.Gln515Ter) rs1937999343
NM_153026.3(PRICKLE1):c.154T>G (p.Leu52Val)
NM_153026.3(PRICKLE1):c.1557T>C (p.Asp519=)
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=) rs758126980
NM_153026.3(PRICKLE1):c.156A>G (p.Leu52=)
NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup) rs1937998007
NM_153026.3(PRICKLE1):c.1595G>A (p.Ser532Asn) rs778765052
NM_153026.3(PRICKLE1):c.1596T>C (p.Ser532=) rs1937997691
NM_153026.3(PRICKLE1):c.1600C>A (p.Arg534=) rs936545109
NM_153026.3(PRICKLE1):c.1600C>T (p.Arg534Trp) rs936545109
NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=)
NM_153026.3(PRICKLE1):c.1613A>G (p.Asp538Gly)
NM_153026.3(PRICKLE1):c.1621G>T (p.Ala541Ser) rs763169354
NM_153026.3(PRICKLE1):c.1623A>T (p.Ala541=) rs776141626
NM_153026.3(PRICKLE1):c.1629C>A (p.Ser543=) rs748556304
NM_153026.3(PRICKLE1):c.162G>A (p.Glu54=) rs1593113981
NM_153026.3(PRICKLE1):c.162G>T (p.Glu54Asp) rs1593113981
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1639+8_1639+20del rs1488350369
NM_153026.3(PRICKLE1):c.1640-12C>T
NM_153026.3(PRICKLE1):c.1640-14G>A rs2140088689
NM_153026.3(PRICKLE1):c.1640-20T>A rs2140088702
NM_153026.3(PRICKLE1):c.1640-9C>G
NM_153026.3(PRICKLE1):c.1640G>A (p.Gly547Glu)
NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=)
NM_153026.3(PRICKLE1):c.1655G>A (p.Gly552Glu) rs1055556905
NM_153026.3(PRICKLE1):c.1660A>C (p.Asn554His)
NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=)
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.3(PRICKLE1):c.1688T>C (p.Leu563Pro) rs1002543932
NM_153026.3(PRICKLE1):c.1714_1715del (p.Glu572fs) rs2140088272
NM_153026.3(PRICKLE1):c.1736A>G (p.Asn579Ser)
NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=)
NM_153026.3(PRICKLE1):c.1767C>G (p.His589Gln)
NM_153026.3(PRICKLE1):c.1771A>G (p.Ser591Gly) rs1593100814
NM_153026.3(PRICKLE1):c.1788G>T (p.Lys596Asn) rs1937785933
NM_153026.3(PRICKLE1):c.1799C>T (p.Ser600Leu)
NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=)
NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg) rs1937784313
NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=)
NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu) rs1937783195
NM_153026.3(PRICKLE1):c.1851A>T (p.Pro617=) rs2140087611
NM_153026.3(PRICKLE1):c.1858A>G (p.Arg620Gly)
NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=)
NM_153026.3(PRICKLE1):c.1868A>G (p.Lys623Arg) rs1937780289
NM_153026.3(PRICKLE1):c.1869G>C (p.Lys623Asn) rs150809651
NM_153026.3(PRICKLE1):c.1875A>G (p.Gln625=)
NM_153026.3(PRICKLE1):c.1879A>C (p.Arg627=)
NM_153026.3(PRICKLE1):c.1884C>G (p.Pro628=)
NM_153026.3(PRICKLE1):c.1899T>G (p.Phe633Leu) rs3747563
NM_153026.3(PRICKLE1):c.1901_1902delinsGC (p.Ser634Cys)
NM_153026.3(PRICKLE1):c.1908T>C (p.Asp636=) rs2140087363
NM_153026.3(PRICKLE1):c.191G>A (p.Gly64Glu)
NM_153026.3(PRICKLE1):c.1942C>T (p.Arg648Trp) rs370129051
NM_153026.3(PRICKLE1):c.1943G>A (p.Arg648Gln) rs1937776331
NM_153026.3(PRICKLE1):c.1944G>A (p.Arg648=) rs2140087181
NM_153026.3(PRICKLE1):c.1952C>T (p.Pro651Leu) rs750913400
NM_153026.3(PRICKLE1):c.1956G>T (p.Met652Ile) rs2140087105
NM_153026.3(PRICKLE1):c.1970G>A (p.Arg657Gln)
NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=) rs2140086977
NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs) rs1937772079
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=) rs1555229340
NM_153026.3(PRICKLE1):c.199C>A (p.His67Asn) rs2140119023
NM_153026.3(PRICKLE1):c.2012A>T (p.His671Leu) rs1555229335
NM_153026.3(PRICKLE1):c.2020C>T (p.Arg674Cys)
NM_153026.3(PRICKLE1):c.2021G>A (p.Arg674His) rs748173327
NM_153026.3(PRICKLE1):c.2026C>T (p.Arg676Trp) rs779314205
NM_153026.3(PRICKLE1):c.2029A>C (p.Arg677=) rs2140086570
NM_153026.3(PRICKLE1):c.202C>A (p.Arg68=) rs1305368228
NM_153026.3(PRICKLE1):c.202C>T (p.Arg68Trp)
NM_153026.3(PRICKLE1):c.2031A>T (p.Arg677Ser)
NM_153026.3(PRICKLE1):c.2050G>A (p.Asp684Asn)
NM_153026.3(PRICKLE1):c.2053A>G (p.Asn685Asp)
NM_153026.3(PRICKLE1):c.2054A>G (p.Asn685Ser)
NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val) rs1938264291
NM_153026.3(PRICKLE1):c.2089C>T (p.Pro697Ser) rs781672373
NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)
NM_153026.3(PRICKLE1):c.2097C>A (p.Asp699Glu) rs1555229289
NM_153026.3(PRICKLE1):c.2107C>G (p.Leu703Val) rs1937760935
NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=) rs955109457
NM_153026.3(PRICKLE1):c.2111A>T (p.Tyr704Phe)
NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)
NM_153026.3(PRICKLE1):c.2116C>T (p.Pro706Ser)
NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)
NM_153026.3(PRICKLE1):c.2122A>G (p.Asn708Asp) rs371991440
NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu) rs1937756868
NM_153026.3(PRICKLE1):c.2145T>A (p.Asn715Lys)
NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val) rs925234164
NM_153026.3(PRICKLE1):c.2156G>T (p.Arg719Leu) rs779059953
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=) rs1593099876
NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met) rs1273178828
NM_153026.3(PRICKLE1):c.2195_2203del (p.Gly732_Tyr734del) rs1333451337
NM_153026.3(PRICKLE1):c.220T>A (p.Tyr74Asn)
NM_153026.3(PRICKLE1):c.2218G>A (p.Asp740Asn)
NM_153026.3(PRICKLE1):c.2218G>T (p.Asp740Tyr) rs760738396
NM_153026.3(PRICKLE1):c.2225G>T (p.Gly742Val) rs1180000042
NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=) rs2140085472
NM_153026.3(PRICKLE1):c.2245A>C (p.Asn749His) rs1937748497
NM_153026.3(PRICKLE1):c.2255T>C (p.Leu752Pro) rs2140085364
NM_153026.3(PRICKLE1):c.2266G>C (p.Gly756Arg) rs777019107
NM_153026.3(PRICKLE1):c.2272GAT[2] (p.Asp760del) rs557205452
NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe) rs1937743406
NM_153026.3(PRICKLE1):c.2324A>G (p.Glu775Gly) rs1239945627
NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=)
NM_153026.3(PRICKLE1):c.2360G>A (p.Arg787Gln) rs776819993
NM_153026.3(PRICKLE1):c.237T>G (p.His79Gln) rs2140118839
NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=) rs538043977
NM_153026.3(PRICKLE1):c.2388T>C (p.Asp796=) rs778528977
NM_153026.3(PRICKLE1):c.2401C>T (p.Pro801Ser)
NM_153026.3(PRICKLE1):c.2403A>T (p.Pro801=) rs1434346670
NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=)
NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=)
NM_153026.3(PRICKLE1):c.2413C>G (p.Leu805Val) rs2140084269
NM_153026.3(PRICKLE1):c.2420C>T (p.Thr807Ile)
NM_153026.3(PRICKLE1):c.2423C>T (p.Pro808Leu) rs2140084244
NM_153026.3(PRICKLE1):c.2458A>C (p.Lys820Gln) rs1342604313
NM_153026.3(PRICKLE1):c.2459A>G (p.Lys820Arg) rs1798772229
NM_153026.3(PRICKLE1):c.246+20G>T
NM_153026.3(PRICKLE1):c.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=) rs1593099130
NM_153026.3(PRICKLE1):c.27G>A (p.Met9Ile) rs1938365238
NM_153026.3(PRICKLE1):c.341T>C (p.Ile114Thr)
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val) rs1343849513
NM_153026.3(PRICKLE1):c.372T>C (p.Ala124=) rs2140116274
NM_153026.3(PRICKLE1):c.373G>A (p.Val125Met)
NM_153026.3(PRICKLE1):c.379_380insT (p.Glu127fs) rs1938228955
NM_153026.3(PRICKLE1):c.384+11C>T
NM_153026.3(PRICKLE1):c.384+3G>A rs2140116219
NM_153026.3(PRICKLE1):c.384+6C>A rs764025084
NM_153026.3(PRICKLE1):c.385-7T>C rs2140114516
NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=)
NM_153026.3(PRICKLE1):c.399A>G (p.Ile133Met)
NM_153026.3(PRICKLE1):c.3G>A (p.Met1Ile) rs1593116403
NM_153026.3(PRICKLE1):c.406G>A (p.Gly136Ser) rs773739764
NM_153026.3(PRICKLE1):c.415G>A (p.Ala139Thr) rs1938205447
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys) rs1284958285
NM_153026.3(PRICKLE1):c.431G>T (p.Arg144Leu) rs281865563
NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr) rs1938203596
NM_153026.3(PRICKLE1):c.439C>T (p.Pro147Ser) rs1938202392
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=) rs1060504780
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.458del (p.Pro153fs)
NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe) rs1938200477
NM_153026.3(PRICKLE1):c.473del (p.Cys158fs) rs1938199369
NM_153026.3(PRICKLE1):c.489G>A (p.Glu163=) rs2140113843
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.3(PRICKLE1):c.499G>A (p.Asp167Asn) rs2140113781
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys) rs771717707
NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=)
NM_153026.3(PRICKLE1):c.522T>C (p.Asp174=) rs2140113680
NM_153026.3(PRICKLE1):c.540C>T (p.Gly180=) rs1938195548
NM_153026.3(PRICKLE1):c.55A>G (p.Ser19Gly)
NM_153026.3(PRICKLE1):c.568C>T (p.Arg190Trp) rs2140113478
NM_153026.3(PRICKLE1):c.586G>A (p.Glu196Lys) rs759969939
NM_153026.3(PRICKLE1):c.588+10del rs766626651
NM_153026.3(PRICKLE1):c.588+10dup rs766626651
NM_153026.3(PRICKLE1):c.588+11G>C rs1566084330
NM_153026.3(PRICKLE1):c.588+17C>T
NM_153026.3(PRICKLE1):c.588+5A>C rs1593111486
NM_153026.3(PRICKLE1):c.588+6A>C
NM_153026.3(PRICKLE1):c.588+8A>G rs1413160382
NM_153026.3(PRICKLE1):c.589-9T>G rs2140106433
NM_153026.3(PRICKLE1):c.590T>C (p.Ile197Thr) rs542029566
NM_153026.3(PRICKLE1):c.611C>T (p.Thr204Ile)
NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=)
NM_153026.3(PRICKLE1):c.689A>G (p.Tyr230Cys) rs773561952
NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu) rs1457774536
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser) rs796052930
NM_153026.3(PRICKLE1):c.718T>A (p.Cys240Ser)
NM_153026.3(PRICKLE1):c.72T>G (p.Asp24Glu) rs1566087431
NM_153026.3(PRICKLE1):c.740A>G (p.Tyr247Cys)
NM_153026.3(PRICKLE1):c.743C>T (p.Ala248Val) rs1566082169
NM_153026.3(PRICKLE1):c.746A>C (p.Glu249Ala)
NM_153026.3(PRICKLE1):c.758_759delinsAA (p.Thr253Lys)
NM_153026.3(PRICKLE1):c.764G>A (p.Gly255Glu)
NM_153026.3(PRICKLE1):c.772A>G (p.Ile258Val)
NM_153026.3(PRICKLE1):c.773T>C (p.Ile258Thr) rs1938088327
NM_153026.3(PRICKLE1):c.774T>C (p.Ile258=)
NM_153026.3(PRICKLE1):c.775+3A>G
NM_153026.3(PRICKLE1):c.775+9_775+18del rs769446547
NM_153026.3(PRICKLE1):c.88T>C (p.Leu30=) rs2140124993
NM_153026.3(PRICKLE1):c.8del (p.Leu3fs) rs754532709

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.