ClinVar Miner

List of variants in gene PRICKLE2 reported as likely benign for central nervous system disorder

Included ClinVar conditions (2498):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 158
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.-252G>C rs142388795 0.01230
NM_198859.4(PRICKLE2):c.*3489G>A rs143062140 0.00811
NM_198859.4(PRICKLE2):c.*3852C>A rs153731 0.00717
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_198859.4(PRICKLE2):c.*4057G>A rs140931283 0.00204
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069 0.00190
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) rs148689951 0.00097
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_198859.4(PRICKLE2):c.396+20A>C rs200795972 0.00024
NM_198859.4(PRICKLE2):c.*133G>A rs370569305 0.00021
NM_198859.4(PRICKLE2):c.*4354C>G rs186186236 0.00017
NM_198859.4(PRICKLE2):c.1044G>A (p.Glu348=) rs759826899 0.00017
NM_198859.4(PRICKLE2):c.1661-19C>T rs542772297 0.00014
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00012
NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=) rs143141434 0.00011
NM_198859.4(PRICKLE2):c.1425G>A (p.Gly475=) rs147177975 0.00010
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200 0.00009
NM_198859.4(PRICKLE2):c.1737T>C (p.Ser579=) rs1477115652 0.00009
NM_198859.4(PRICKLE2):c.906C>T (p.Gly302=) rs369079932 0.00009
NM_198859.4(PRICKLE2):c.1104C>T (p.Asp368=) rs749983619 0.00008
NM_198859.4(PRICKLE2):c.1311C>G (p.Ala437=) rs140374952 0.00006
NM_198859.4(PRICKLE2):c.1332G>A (p.Lys444=) rs949245293 0.00006
NM_198859.4(PRICKLE2):c.1413C>T (p.Asp471=) rs771425247 0.00006
NM_198859.4(PRICKLE2):c.2235C>T (p.Tyr745=) rs532567960 0.00006
NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=) rs751122249 0.00006
NM_198859.4(PRICKLE2):c.2259G>A (p.Ser753=) rs769036804 0.00005
NM_198859.4(PRICKLE2):c.1098A>C (p.Ser366=) rs779640034 0.00004
NM_198859.4(PRICKLE2):c.1661-11C>G rs748395499 0.00004
NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=) rs1431593729 0.00004
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=) rs148888682 0.00004
NM_198859.4(PRICKLE2):c.788-20A>G rs773057901 0.00004
NM_198859.4(PRICKLE2):c.*2633G>A rs140420417 0.00003
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198859.4(PRICKLE2):c.1359G>A (p.Ser453=) rs376231873 0.00003
NM_198859.4(PRICKLE2):c.2142G>A (p.Arg714=) rs1177384016 0.00003
NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=) rs777032629 0.00003
NM_198859.4(PRICKLE2):c.*2269T>C rs550841859 0.00002
NM_198859.4(PRICKLE2):c.*3178G>C rs528929996 0.00002
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106 0.00002
NM_198859.4(PRICKLE2):c.1422G>A (p.Pro474=) rs778956632 0.00002
NM_198859.4(PRICKLE2):c.144+19G>A rs778658655 0.00002
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=) rs886058800 0.00002
NM_198859.4(PRICKLE2):c.1661-15T>C rs1330364882 0.00002
NM_198859.4(PRICKLE2):c.18G>A (p.Pro6=) rs754063352 0.00002
NM_198859.4(PRICKLE2):c.750G>A (p.Leu250=) rs745835545 0.00002
NM_198859.4(PRICKLE2):c.792C>T (p.Ile264=) rs759827180 0.00002
NM_198859.4(PRICKLE2):c.897G>A (p.Pro299=) rs1312900152 0.00002
NM_198859.4(PRICKLE2):c.1101C>T (p.Ala367=) rs755732268 0.00001
NM_198859.4(PRICKLE2):c.1323G>A (p.Met441Ile) rs546622086 0.00001
NM_198859.4(PRICKLE2):c.141A>G (p.Glu47=) rs2078511790 0.00001
NM_198859.4(PRICKLE2):c.1579C>T (p.Leu527=) rs992998143 0.00001
NM_198859.4(PRICKLE2):c.1593G>A (p.Glu531=) rs1337013281 0.00001
NM_198859.4(PRICKLE2):c.1621C>A (p.Arg541=) rs372400638 0.00001
NM_198859.4(PRICKLE2):c.1661-18C>T rs770658226 0.00001
NM_198859.4(PRICKLE2):c.1701A>G (p.Leu567=) rs1192406278 0.00001
NM_198859.4(PRICKLE2):c.1950G>A (p.Ala650=) rs1310483187 0.00001
NM_198859.4(PRICKLE2):c.2085C>T (p.Ser695=) rs1174848549 0.00001
NM_198859.4(PRICKLE2):c.2169T>C (p.Tyr723=) rs779638112 0.00001
NM_198859.4(PRICKLE2):c.2175A>G (p.Gln725=) rs769402289 0.00001
NM_198859.4(PRICKLE2):c.2343T>C (p.Ser781=) rs1348100945 0.00001
NM_198859.4(PRICKLE2):c.2457C>G (p.Pro819=) rs1324717403 0.00001
NM_198859.4(PRICKLE2):c.2526C>T (p.Ile842=) rs2076610677 0.00001
NM_198859.4(PRICKLE2):c.264A>T (p.Arg88=) rs769630015 0.00001
NM_198859.4(PRICKLE2):c.360T>A (p.Pro120=) rs191871740 0.00001
NM_198859.4(PRICKLE2):c.397-8C>T rs762192312 0.00001
NM_198859.4(PRICKLE2):c.426C>A (p.Ile142=) rs559904651 0.00001
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=) rs777067889 0.00001
NM_198859.4(PRICKLE2):c.483A>G (p.Val161=) rs771805969 0.00001
NM_198859.4(PRICKLE2):c.492C>T (p.Val164=) rs2077651144 0.00001
NM_198859.4(PRICKLE2):c.600+7G>A rs765317470 0.00001
NM_198859.4(PRICKLE2):c.600+8C>T rs759566367 0.00001
NM_198859.4(PRICKLE2):c.601-10C>A rs756949758 0.00001
NM_198859.4(PRICKLE2):c.637C>A (p.Arg213=) rs753970642 0.00001
NM_198859.4(PRICKLE2):c.660T>C (p.Phe220=) rs756711521 0.00001
NM_198859.4(PRICKLE2):c.714G>A (p.Glu238=) rs941704858 0.00001
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=) rs888655219 0.00001
NM_198859.4(PRICKLE2):c.990G>A (p.Arg330=) rs370001319 0.00001
NM_198859.4(PRICKLE2):c.1116G>A (p.Leu372=)
NM_198859.4(PRICKLE2):c.1120C>T (p.Leu374=)
NM_198859.4(PRICKLE2):c.1143G>A (p.Leu381=)
NM_198859.4(PRICKLE2):c.1158C>A (p.Pro386=) rs766760309
NM_198859.4(PRICKLE2):c.1185G>A (p.Arg395=) rs1426180064
NM_198859.4(PRICKLE2):c.1254C>G (p.Leu418=)
NM_198859.4(PRICKLE2):c.126G>A (p.Pro42=)
NM_198859.4(PRICKLE2):c.1275A>G (p.Arg425=)
NM_198859.4(PRICKLE2):c.1290A>G (p.Pro430=)
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
NM_198859.4(PRICKLE2):c.1362A>C (p.Ser454=)
NM_198859.4(PRICKLE2):c.144+12G>T
NM_198859.4(PRICKLE2):c.1449C>T (p.Tyr483=)
NM_198859.4(PRICKLE2):c.145-15C>T
NM_198859.4(PRICKLE2):c.1476T>C (p.Ser492=) rs2107015019
NM_198859.4(PRICKLE2):c.1482C>T (p.Thr494=)
NM_198859.4(PRICKLE2):c.1512G>A (p.Glu504=)
NM_198859.4(PRICKLE2):c.1545T>C (p.Thr515=) rs747702861
NM_198859.4(PRICKLE2):c.1557G>A (p.Arg519=) rs2107014820
NM_198859.4(PRICKLE2):c.1560C>G (p.Thr520=) rs2107014810
NM_198859.4(PRICKLE2):c.1584A>G (p.Lys528=) rs2077464539
NM_198859.4(PRICKLE2):c.1650T>C (p.Ser550=)
NM_198859.4(PRICKLE2):c.1660+14A>G rs549966146
NM_198859.4(PRICKLE2):c.1785G>A (p.Ser595=)
NM_198859.4(PRICKLE2):c.1944G>C (p.Gly648=) rs2076622893
NM_198859.4(PRICKLE2):c.1959G>A (p.Lys653=) rs1449765785
NM_198859.4(PRICKLE2):c.1977C>G (p.Gly659=) rs376252127
NM_198859.4(PRICKLE2):c.2031C>T (p.Asp677=)
NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=) rs1575531163
NM_198859.4(PRICKLE2):c.2082C>T (p.Arg694=)
NM_198859.4(PRICKLE2):c.2121C>G (p.Ala707=) rs1278527320
NM_198859.4(PRICKLE2):c.2121C>T (p.Ala707=)
NM_198859.4(PRICKLE2):c.2127C>T (p.Ser709=) rs2106935376
NM_198859.4(PRICKLE2):c.2160G>A (p.Arg720=) rs1003980147
NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=)
NM_198859.4(PRICKLE2):c.2184C>A (p.Arg728=) rs1262461948
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.4(PRICKLE2):c.222G>A (p.Lys74=) rs2107045863
NM_198859.4(PRICKLE2):c.2244C>T (p.Cys748=) rs2106935117
NM_198859.4(PRICKLE2):c.225G>A (p.Gln75=) rs1575606617
NM_198859.4(PRICKLE2):c.2274G>A (p.Gln758=) rs2076615763
NM_198859.4(PRICKLE2):c.2283T>C (p.Phe761=) rs1575530550
NM_198859.4(PRICKLE2):c.2352T>G (p.Ser784=)
NM_198859.4(PRICKLE2):c.243G>A (p.Pro81=)
NM_198859.4(PRICKLE2):c.2442C>T (p.Ser814=)
NM_198859.4(PRICKLE2):c.2445C>T (p.Ser815=) rs1346052915
NM_198859.4(PRICKLE2):c.2493C>T (p.His831=) rs2106934707
NM_198859.4(PRICKLE2):c.2517A>G (p.Lys839=)
NM_198859.4(PRICKLE2):c.2532T>C (p.Ser844=) rs748122339
NM_198859.4(PRICKLE2):c.258+19C>T
NM_198859.4(PRICKLE2):c.259-12G>T rs751516474
NM_198859.4(PRICKLE2):c.30G>A (p.Glu10=)
NM_198859.4(PRICKLE2):c.315C>T (p.Ser105=)
NM_198859.4(PRICKLE2):c.366A>C (p.Pro122=) rs1248570551
NM_198859.4(PRICKLE2):c.369C>T (p.Val123=) rs1458439956
NM_198859.4(PRICKLE2):c.372C>T (p.Thr124=) rs201949075
NM_198859.4(PRICKLE2):c.396+19G>A
NM_198859.4(PRICKLE2):c.396+19G>T
NM_198859.4(PRICKLE2):c.397-7C>T rs1575600608
NM_198859.4(PRICKLE2):c.399C>T (p.Cys133=)
NM_198859.4(PRICKLE2):c.453C>T (p.His151=)
NM_198859.4(PRICKLE2):c.489T>G (p.Thr163=) rs2107034580
NM_198859.4(PRICKLE2):c.504C>T (p.Leu168=) rs1362874246
NM_198859.4(PRICKLE2):c.543A>T (p.Ile181=) rs952961914
NM_198859.4(PRICKLE2):c.561T>C (p.His187=)
NM_198859.4(PRICKLE2):c.585T>C (p.Cys195=) rs2077648753
NM_198859.4(PRICKLE2):c.633G>A (p.Glu211=)
NM_198859.4(PRICKLE2):c.732C>T (p.Cys244=) rs1575596028
NM_198859.4(PRICKLE2):c.741C>T (p.Phe247=)
NM_198859.4(PRICKLE2):c.759A>G (p.Glu253=) rs1422015238
NM_198859.4(PRICKLE2):c.762T>C (p.Tyr254=) rs2077574651
NM_198859.4(PRICKLE2):c.780A>G (p.Gln260=)
NM_198859.4(PRICKLE2):c.788-28_788-20del
NM_198859.4(PRICKLE2):c.788-6T>G rs180903875
NM_198859.4(PRICKLE2):c.81T>C (p.Asp27=) rs1435284437
NM_198859.4(PRICKLE2):c.837T>C (p.Thr279=) rs1226884715
NM_198859.4(PRICKLE2):c.843C>A (p.Thr281=) rs2107016324
NM_198859.4(PRICKLE2):c.894C>A (p.Leu298=) rs372232760
NM_198859.4(PRICKLE2):c.906C>A (p.Gly302=) rs369079932
NM_198859.4(PRICKLE2):c.906C>G (p.Gly302=) rs369079932

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.