ClinVar Miner

List of variants studied for Progressive myoclonic epilepsy type 5

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 446
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_198859.4(PRICKLE2):c.144+10T>C rs74535153 0.00742
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
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.1035C>G (p.Gly345=) rs34084584 0.00138
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00119
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=) rs149786687 0.00113
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) rs148689951 0.00097
NM_198859.4(PRICKLE2):c.145-4T>G rs375489210 0.00073
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_198859.4(PRICKLE2):c.2433C>G (p.His811Gln) rs113542442 0.00032
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942 0.00028
NM_198859.4(PRICKLE2):c.144+12G>T rs771884660 0.00026
NM_198859.4(PRICKLE2):c.396+20A>C rs200795972 0.00024
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00022
NM_198859.4(PRICKLE2):c.1044G>A (p.Glu348=) rs759826899 0.00017
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=) rs367685080 0.00017
NM_198859.4(PRICKLE2):c.1091G>A (p.Arg364Gln) rs372367565 0.00016
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200 0.00015
NM_198859.4(PRICKLE2):c.1661-19C>T rs542772297 0.00014
NM_198859.4(PRICKLE2):c.437C>T (p.Ala146Val) rs369686744 0.00014
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_198859.4(PRICKLE2):c.6G>A (p.Val2=) rs201779407 0.00012
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00011
NM_198859.4(PRICKLE2):c.972C>T (p.Ser324=) rs143141434 0.00011
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417 0.00010
NM_198859.4(PRICKLE2):c.1737T>C (p.Ser579=) rs1477115652 0.00009
NM_198859.4(PRICKLE2):c.267T>C (p.Tyr89=) rs199642985 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.1425G>A (p.Gly475=) rs147177975 0.00008
NM_198859.4(PRICKLE2):c.635G>A (p.Gly212Glu) rs779069863 0.00008
NM_198859.4(PRICKLE2):c.1532G>C (p.Gly511Ala) rs755987796 0.00007
NM_198859.4(PRICKLE2):c.1573A>G (p.Ser525Gly) rs755802840 0.00007
NM_198859.4(PRICKLE2):c.1937A>G (p.Asp646Gly) rs533891439 0.00007
NM_198859.4(PRICKLE2):c.2114G>C (p.Arg705Pro) rs760877594 0.00007
NM_198859.4(PRICKLE2):c.1208A>T (p.Tyr403Phe) rs199785142 0.00006
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.1457T>C (p.Met486Thr) rs751661338 0.00006
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met) rs368904012 0.00006
NM_198859.4(PRICKLE2):c.2235C>T (p.Tyr745=) rs532567960 0.00006
NM_198859.4(PRICKLE2):c.2275A>C (p.Asn759His) rs565155814 0.00006
NM_198859.4(PRICKLE2):c.330C>T (p.Arg110=) rs751122249 0.00006
NM_198859.4(PRICKLE2):c.638G>A (p.Arg213Gln) rs775154480 0.00006
NM_198859.4(PRICKLE2):c.1323G>A (p.Met441Ile) rs546622086 0.00005
NM_198859.4(PRICKLE2):c.1406G>A (p.Arg469Gln) rs746640172 0.00005
NM_198859.4(PRICKLE2):c.1413C>T (p.Asp471=) rs771425247 0.00005
NM_198859.4(PRICKLE2):c.1601C>T (p.Thr534Met) rs559885674 0.00005
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.126G>A (p.Pro42=) rs145790169 0.00004
NM_198859.4(PRICKLE2):c.1661-11C>G rs748395499 0.00004
NM_198859.4(PRICKLE2):c.1679G>A (p.Gly560Asp) rs749378051 0.00004
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989 0.00004
NM_198859.4(PRICKLE2):c.1959G>T (p.Lys653Asn) rs1449765785 0.00004
NM_198859.4(PRICKLE2):c.2219C>T (p.Ser740Phe) rs760799226 0.00004
NM_198859.4(PRICKLE2):c.243G>A (p.Pro81=) rs769547075 0.00004
NM_198859.4(PRICKLE2):c.2532T>C (p.Ser844=) rs748122339 0.00004
NM_198859.4(PRICKLE2):c.271A>C (p.Asn91His) rs1256565263 0.00004
NM_198859.4(PRICKLE2):c.328C>T (p.Arg110Cys) rs750086425 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.950A>G (p.Asn317Ser) rs201556180 0.00004
NM_198859.4(PRICKLE2):c.973G>A (p.Ala325Thr) rs760554761 0.00004
NM_198859.4(PRICKLE2):c.1040C>T (p.Thr347Met) rs375755312 0.00003
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198859.4(PRICKLE2):c.1090C>T (p.Arg364Trp) rs755313340 0.00003
NM_198859.4(PRICKLE2):c.1190G>A (p.Arg397Gln) rs550384726 0.00003
NM_198859.4(PRICKLE2):c.1359G>A (p.Ser453=) rs376231873 0.00003
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp) rs772691573 0.00003
NM_198859.4(PRICKLE2):c.1597A>G (p.Met533Val) rs758585243 0.00003
NM_198859.4(PRICKLE2):c.1688G>A (p.Arg563His) rs375448087 0.00003
NM_198859.4(PRICKLE2):c.1691A>G (p.Gln564Arg) rs372175446 0.00003
NM_198859.4(PRICKLE2):c.1803C>T (p.Ser601=) rs1431593729 0.00003
NM_198859.4(PRICKLE2):c.2142G>A (p.Arg714=) rs1177384016 0.00003
NM_198859.4(PRICKLE2):c.2187G>C (p.Gln729His) rs142077804 0.00003
NM_198859.4(PRICKLE2):c.2207T>G (p.Met736Arg) rs758228643 0.00003
NM_198859.4(PRICKLE2):c.2282T>A (p.Phe761Tyr) rs765569869 0.00003
NM_198859.4(PRICKLE2):c.2479A>C (p.Arg827=) rs777032629 0.00003
NM_198859.4(PRICKLE2):c.527A>G (p.Tyr176Cys) rs188632189 0.00003
NM_198859.4(PRICKLE2):c.884G>A (p.Arg295Gln) rs545235523 0.00003
NM_198859.4(PRICKLE2):c.1101C>T (p.Ala367=) rs755732268 0.00002
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106 0.00002
NM_198859.4(PRICKLE2):c.1371G>A (p.Met457Ile) rs201170479 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.1512G>A (p.Glu504=) rs1394961962 0.00002
NM_198859.4(PRICKLE2):c.1556G>A (p.Arg519Gln) rs199925718 0.00002
NM_198859.4(PRICKLE2):c.1561C>T (p.Arg521Cys) rs749232741 0.00002
NM_198859.4(PRICKLE2):c.1590A>G (p.Thr530=) rs886058800 0.00002
NM_198859.4(PRICKLE2):c.1642G>A (p.Ala548Thr) rs375557486 0.00002
NM_198859.4(PRICKLE2):c.1661-15T>C rs1330364882 0.00002
NM_198859.4(PRICKLE2):c.1804G>A (p.Ala602Thr) rs772970017 0.00002
NM_198859.4(PRICKLE2):c.1851G>A (p.Met617Ile) rs771413626 0.00002
NM_198859.4(PRICKLE2):c.18G>A (p.Pro6=) rs754063352 0.00002
NM_198859.4(PRICKLE2):c.1975G>A (p.Gly659Ser) rs141791087 0.00002
NM_198859.4(PRICKLE2):c.1994T>C (p.Met665Thr) rs200223474 0.00002
NM_198859.4(PRICKLE2):c.229C>G (p.Leu77Val) rs765702961 0.00002
NM_198859.4(PRICKLE2):c.2393C>T (p.Pro798Leu) rs371055489 0.00002
NM_198859.4(PRICKLE2):c.2459A>G (p.Lys820Arg) rs138533058 0.00002
NM_198859.4(PRICKLE2):c.268T>G (p.Cys90Gly) rs1443371091 0.00002
NM_198859.4(PRICKLE2):c.315C>T (p.Ser105=) rs780348941 0.00002
NM_198859.4(PRICKLE2):c.396G>T (p.Gln132His) rs1446878933 0.00002
NM_198859.4(PRICKLE2):c.426C>A (p.Ile142=) rs559904651 0.00002
NM_198859.4(PRICKLE2):c.427G>A (p.Ala143Thr) rs372791530 0.00002
NM_198859.4(PRICKLE2):c.454G>A (p.Gly152Ser) rs199566606 0.00002
NM_198859.4(PRICKLE2):c.680C>T (p.Thr227Ile) rs750828226 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.923G>A (p.Arg308Gln) rs150386533 0.00002
NM_198859.4(PRICKLE2):c.926C>G (p.Ala309Gly) rs201966297 0.00002
NM_198859.4(PRICKLE2):c.1004G>A (p.Arg335Gln) rs754654816 0.00001
NM_198859.4(PRICKLE2):c.1006C>T (p.Arg336Cys) rs375548121 0.00001
NM_198859.4(PRICKLE2):c.1010G>C (p.Ser337Thr) rs750388947 0.00001
NM_198859.4(PRICKLE2):c.1047G>T (p.Glu349Asp) rs776851070 0.00001
NM_198859.4(PRICKLE2):c.1102G>A (p.Asp368Asn) rs544405738 0.00001
NM_198859.4(PRICKLE2):c.1120C>T (p.Leu374=) rs1016920348 0.00001
NM_198859.4(PRICKLE2):c.1132A>G (p.Met378Val) rs751445312 0.00001
NM_198859.4(PRICKLE2):c.1139G>T (p.Ser380Ile) rs1345969937 0.00001
NM_198859.4(PRICKLE2):c.1143G>A (p.Leu381=) rs775118648 0.00001
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989 0.00001
NM_198859.4(PRICKLE2):c.1189C>T (p.Arg397Trp) rs1559539086 0.00001
NM_198859.4(PRICKLE2):c.1290A>G (p.Pro430=) rs1330969977 0.00001
NM_198859.4(PRICKLE2):c.1318G>A (p.Glu440Lys) rs780771241 0.00001
NM_198859.4(PRICKLE2):c.1328G>A (p.Gly443Asp) rs370412590 0.00001
NM_198859.4(PRICKLE2):c.1367C>T (p.Ala456Val) rs1441238911 0.00001
NM_198859.4(PRICKLE2):c.1376G>T (p.Gly459Val) rs1487385707 0.00001
NM_198859.4(PRICKLE2):c.1395C>T (p.Ile465=) rs759852197 0.00001
NM_198859.4(PRICKLE2):c.141A>G (p.Glu47=) rs2078511790 0.00001
NM_198859.4(PRICKLE2):c.144+3A>G rs746978790 0.00001
NM_198859.4(PRICKLE2):c.1445G>A (p.Ser482Asn) rs2107015068 0.00001
NM_198859.4(PRICKLE2):c.1449C>T (p.Tyr483=) rs2077467488 0.00001
NM_198859.4(PRICKLE2):c.1528G>A (p.Glu510Lys) rs777124617 0.00001
NM_198859.4(PRICKLE2):c.1543A>G (p.Thr515Ala) rs920205583 0.00001
NM_198859.4(PRICKLE2):c.1545T>C (p.Thr515=) rs747702861 0.00001
NM_198859.4(PRICKLE2):c.1562G>A (p.Arg521His) rs779903053 0.00001
NM_198859.4(PRICKLE2):c.1568C>A (p.Pro523His) rs2077464822 0.00001
NM_198859.4(PRICKLE2):c.1576T>C (p.Ser526Pro) rs1054433686 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.1625G>T (p.Gly542Val) rs1245428599 0.00001
NM_198859.4(PRICKLE2):c.1643C>A (p.Ala548Asp) rs1257877651 0.00001
NM_198859.4(PRICKLE2):c.1658C>T (p.Thr553Ile) rs372225003 0.00001
NM_198859.4(PRICKLE2):c.1661-18C>T rs770658226 0.00001
NM_198859.4(PRICKLE2):c.1667C>A (p.Ser556Tyr) rs1205407393 0.00001
NM_198859.4(PRICKLE2):c.1681G>A (p.Ala561Thr) rs1225130013 0.00001
NM_198859.4(PRICKLE2):c.1687C>T (p.Arg563Cys) rs1277522148 0.00001
NM_198859.4(PRICKLE2):c.1701A>G (p.Leu567=) rs1192406278 0.00001
NM_198859.4(PRICKLE2):c.1785G>A (p.Ser595=) rs1216760976 0.00001
NM_198859.4(PRICKLE2):c.17C>T (p.Pro6Leu) rs758069667 0.00001
NM_198859.4(PRICKLE2):c.1850T>C (p.Met617Thr) rs2076624835 0.00001
NM_198859.4(PRICKLE2):c.1858A>T (p.Asn620Tyr) rs757993759 0.00001
NM_198859.4(PRICKLE2):c.1861C>T (p.Leu621Phe) rs759047402 0.00001
NM_198859.4(PRICKLE2):c.1876A>C (p.Asn626His) rs1227637171 0.00001
NM_198859.4(PRICKLE2):c.1907A>T (p.His636Leu) rs145422223 0.00001
NM_198859.4(PRICKLE2):c.194A>G (p.Asn65Ser) rs1338458844 0.00001
NM_198859.4(PRICKLE2):c.1950G>A (p.Ala650=) rs1310483187 0.00001
NM_198859.4(PRICKLE2):c.2003G>A (p.Arg668His) rs1424753428 0.00001
NM_198859.4(PRICKLE2):c.2030A>G (p.Asp677Gly) rs748599215 0.00001
NM_198859.4(PRICKLE2):c.2031C>T (p.Asp677=) rs779135952 0.00001
NM_198859.4(PRICKLE2):c.2082C>T (p.Arg694=) rs961233155 0.00001
NM_198859.4(PRICKLE2):c.2085C>T (p.Ser695=) rs1174848549 0.00001
NM_198859.4(PRICKLE2):c.2088C>A (p.Asp696Glu) rs2076619479 0.00001
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr) rs763974341 0.00001
NM_198859.4(PRICKLE2):c.2113C>T (p.Arg705Cys) rs766598630 0.00001
NM_198859.4(PRICKLE2):c.2169T>C (p.Tyr723=) rs779638112 0.00001
NM_198859.4(PRICKLE2):c.2174A>G (p.Gln725Arg) rs1180228524 0.00001
NM_198859.4(PRICKLE2):c.2175A>G (p.Gln725=) rs769402289 0.00001
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg) rs766757910 0.00001
NM_198859.4(PRICKLE2):c.2222G>A (p.Arg741Gln) rs202197921 0.00001
NM_198859.4(PRICKLE2):c.222G>A (p.Lys74=) rs2107045863 0.00001
NM_198859.4(PRICKLE2):c.2230C>A (p.Leu744Met) rs137975846 0.00001
NM_198859.4(PRICKLE2):c.2234A>G (p.Tyr745Cys) rs1387331875 0.00001
NM_198859.4(PRICKLE2):c.2246C>T (p.Pro749Leu) rs762399074 0.00001
NM_198859.4(PRICKLE2):c.2342C>T (p.Ser781Phe) rs2076614198 0.00001
NM_198859.4(PRICKLE2):c.2352T>G (p.Ser784=) rs763436170 0.00001
NM_198859.4(PRICKLE2):c.2375G>A (p.Gly792Glu) rs776108509 0.00001
NM_198859.4(PRICKLE2):c.2406A>G (p.Arg802=) rs1428966843 0.00001
NM_198859.4(PRICKLE2):c.2416A>C (p.Ser806Arg) rs1481689588 0.00001
NM_198859.4(PRICKLE2):c.2434A>G (p.Lys812Glu) rs1285920791 0.00001
NM_198859.4(PRICKLE2):c.2441G>A (p.Ser814Asn) rs1457237019 0.00001
NM_198859.4(PRICKLE2):c.2442C>T (p.Ser814=) rs150187401 0.00001
NM_198859.4(PRICKLE2):c.2486A>G (p.Gln829Arg) rs1174728731 0.00001
NM_198859.4(PRICKLE2):c.2526C>T (p.Ile842=) rs2076610677 0.00001
NM_198859.4(PRICKLE2):c.258+19C>T rs768449579 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.369C>T (p.Val123=) rs1458439956 0.00001
NM_198859.4(PRICKLE2):c.372C>T (p.Thr124=) rs201949075 0.00001
NM_198859.4(PRICKLE2):c.397-8C>T rs762192312 0.00001
NM_198859.4(PRICKLE2):c.399C>T (p.Cys133=) rs764057934 0.00001
NM_198859.4(PRICKLE2):c.400G>A (p.Gly134Arg) rs775889804 0.00001
NM_198859.4(PRICKLE2):c.413A>G (p.Asn138Ser) rs1247504361 0.00001
NM_198859.4(PRICKLE2):c.424A>G (p.Ile142Val) rs777051702 0.00001
NM_198859.4(PRICKLE2):c.453C>T (p.His151=) rs755914132 0.00001
NM_198859.4(PRICKLE2):c.471G>A (p.Pro157=) rs777067889 0.00001
NM_198859.4(PRICKLE2):c.481G>A (p.Val161Ile) rs773419206 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.543A>T (p.Ile181=) rs952961914 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.63G>C (p.Gln21His) rs752000702 0.00001
NM_198859.4(PRICKLE2):c.660T>C (p.Phe220=) rs756711521 0.00001
NM_198859.4(PRICKLE2):c.72G>A (p.Ser24=) rs888655219 0.00001
NM_198859.4(PRICKLE2):c.732C>T (p.Cys244=) rs1575596028 0.00001
NM_198859.4(PRICKLE2):c.741C>T (p.Phe247=) rs763876127 0.00001
NM_198859.4(PRICKLE2):c.759A>G (p.Glu253=) rs1422015238 0.00001
NM_198859.4(PRICKLE2):c.81T>C (p.Asp27=) rs1435284437 0.00001
NM_198859.4(PRICKLE2):c.837T>C (p.Thr279=) rs1226884715 0.00001
NM_198859.4(PRICKLE2):c.880G>A (p.Gly294Arg) rs765912174 0.00001
NM_198859.4(PRICKLE2):c.961T>G (p.Ser321Ala) rs535310881 0.00001
NM_198859.4(PRICKLE2):c.990G>A (p.Arg330=) rs370001319 0.00001
NM_198859.3(PRICKLE2):c.[443G>A;457G>A]
NM_198859.4(PRICKLE2):c.1007G>A (p.Arg336His) rs147289291
NM_198859.4(PRICKLE2):c.1007G>T (p.Arg336Leu) rs147289291
NM_198859.4(PRICKLE2):c.1010G>A (p.Ser337Asn) rs750388947
NM_198859.4(PRICKLE2):c.1033G>A (p.Gly345Ser) rs2471159165
NM_198859.4(PRICKLE2):c.1055T>G (p.Leu352Arg) rs2077475272
NM_198859.4(PRICKLE2):c.1059C>A (p.Asn353Lys) rs777982538
NM_198859.4(PRICKLE2):c.1068C>T (p.Ser356=)
NM_198859.4(PRICKLE2):c.1091G>C (p.Arg364Pro) rs372367565
NM_198859.4(PRICKLE2):c.1116G>A (p.Leu372=) rs2471159022
NM_198859.4(PRICKLE2):c.1134G>A (p.Met378Ile) rs368695262
NM_198859.4(PRICKLE2):c.1158C>A (p.Pro386=) rs766760309
NM_198859.4(PRICKLE2):c.1175C>A (p.Pro392His) rs2077472798
NM_198859.4(PRICKLE2):c.1184G>A (p.Arg395Lys) rs772212890
NM_198859.4(PRICKLE2):c.1185G>A (p.Arg395=) rs1426180064
NM_198859.4(PRICKLE2):c.1198C>T (p.Pro400Ser)
NM_198859.4(PRICKLE2):c.1241G>A (p.Ser414Asn) rs2077471786
NM_198859.4(PRICKLE2):c.1254C>G (p.Leu418=) rs756730493
NM_198859.4(PRICKLE2):c.1275A>G (p.Arg425=) rs2471158757
NM_198859.4(PRICKLE2):c.1288C>T (p.Pro430Ser)
NM_198859.4(PRICKLE2):c.1302G>T (p.Gly434=)
NM_198859.4(PRICKLE2):c.1310C>T (p.Ala437Val) rs769254046
NM_198859.4(PRICKLE2):c.1316C>T (p.Pro439Leu) rs2107015374
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
NM_198859.4(PRICKLE2):c.1322T>A (p.Met441Lys) rs770462303
NM_198859.4(PRICKLE2):c.1330A>G (p.Lys444Glu) rs2471158664
NM_198859.4(PRICKLE2):c.1352G>A (p.Arg451Lys) rs2077469469
NM_198859.4(PRICKLE2):c.1362A>C (p.Ser454=) rs751719629
NM_198859.4(PRICKLE2):c.1369A>C (p.Met457Leu) rs2107015250
NM_198859.4(PRICKLE2):c.1414T>C (p.Tyr472His) rs2471158513
NM_198859.4(PRICKLE2):c.1421C>T (p.Pro474Leu) rs1292913892
NM_198859.4(PRICKLE2):c.144+6A>G rs2107115161
NM_198859.4(PRICKLE2):c.145-15C>T rs2471182202
NM_198859.4(PRICKLE2):c.1476T>C (p.Ser492=) rs2107015019
NM_198859.4(PRICKLE2):c.1482C>T (p.Thr494=) rs2471158413
NM_198859.4(PRICKLE2):c.1512G>C (p.Glu504Asp) rs1394961962
NM_198859.4(PRICKLE2):c.1514AGGAAG[2] (p.Glu509_Glu510del) rs759955615
NM_198859.4(PRICKLE2):c.1532G>A (p.Gly511Glu) rs755987796
NM_198859.4(PRICKLE2):c.1534G>T (p.Gly512Cys) rs771138800
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.1621C>T (p.Arg541Trp) rs372400638
NM_198859.4(PRICKLE2):c.1622G>A (p.Arg541Gln)
NM_198859.4(PRICKLE2):c.163T>A (p.Cys55Ser) rs781210176
NM_198859.4(PRICKLE2):c.163T>C (p.Cys55Arg) rs781210176
NM_198859.4(PRICKLE2):c.1650T>C (p.Ser550=) rs2471157947
NM_198859.4(PRICKLE2):c.1660+14A>G rs549966146
NM_198859.4(PRICKLE2):c.1660+15C>T
NM_198859.4(PRICKLE2):c.1676GTG[1] (p.Gly560del) rs2076628067
NM_198859.4(PRICKLE2):c.1679G>C (p.Gly560Ala) rs749378051
NM_198859.4(PRICKLE2):c.1722C>G (p.Asp574Glu) rs2471101831
NM_198859.4(PRICKLE2):c.1747G>A (p.Val583Met) rs752217754
NM_198859.4(PRICKLE2):c.1797C>A (p.Phe599Leu) rs2076625828
NM_198859.4(PRICKLE2):c.1798C>T (p.Arg600Trp) rs1431946218
NM_198859.4(PRICKLE2):c.1809G>C (p.Glu603Asp) rs768820914
NM_198859.4(PRICKLE2):c.1817G>A (p.Arg606His) rs2036298379
NM_198859.4(PRICKLE2):c.1832C>A (p.Ala611Asp) rs746399399
NM_198859.4(PRICKLE2):c.1837C>A (p.Gln613Lys) rs2076625078
NM_198859.4(PRICKLE2):c.1862_1864del (p.Leu621del) rs2076624394
NM_198859.4(PRICKLE2):c.188A>T (p.Tyr63Phe) rs2077761285
NM_198859.4(PRICKLE2):c.1903T>C (p.Ser635Pro) rs775727925
NM_198859.4(PRICKLE2):c.1914G>T (p.Arg638Ser) rs2471101551
NM_198859.4(PRICKLE2):c.1916T>A (p.Met639Lys)
NM_198859.4(PRICKLE2):c.1938T>C (p.Asp646=)
NM_198859.4(PRICKLE2):c.1942G>C (p.Gly648Arg) rs2076623046
NM_198859.4(PRICKLE2):c.1943G>T (p.Gly648Val) rs894055397
NM_198859.4(PRICKLE2):c.1944G>C (p.Gly648=) rs2076622893
NM_198859.4(PRICKLE2):c.1949C>A (p.Ala650Glu)
NM_198859.4(PRICKLE2):c.1949C>T (p.Ala650Val) rs747788121
NM_198859.4(PRICKLE2):c.1959G>A (p.Lys653=) rs1449765785
NM_198859.4(PRICKLE2):c.1963C>G (p.Pro655Ala) rs943622033
NM_198859.4(PRICKLE2):c.1976G>A (p.Gly659Asp) rs2076622017
NM_198859.4(PRICKLE2):c.1977C>G (p.Gly659=) rs376252127
NM_198859.4(PRICKLE2):c.1977C>T (p.Gly659=)
NM_198859.4(PRICKLE2):c.2008C>T (p.Arg670Trp)
NM_198859.4(PRICKLE2):c.2009G>A (p.Arg670Gln)
NM_198859.4(PRICKLE2):c.2009G>C (p.Arg670Pro) rs747542060
NM_198859.4(PRICKLE2):c.2010G>A (p.Arg670=)
NM_198859.4(PRICKLE2):c.2020A>G (p.Thr674Ala) rs2471101390
NM_198859.4(PRICKLE2):c.2029G>A (p.Asp677Asn)
NM_198859.4(PRICKLE2):c.2037C>T (p.Asn679=) rs1575531163
NM_198859.4(PRICKLE2):c.2039G>C (p.Arg680Pro) rs1308230146
NM_198859.4(PRICKLE2):c.2075G>A (p.Arg692His) rs2471101296
NM_198859.4(PRICKLE2):c.2078C>G (p.Ser693Cys) rs922368735
NM_198859.4(PRICKLE2):c.2080C>A (p.Arg694Ser) rs2076619764
NM_198859.4(PRICKLE2):c.2091C>A (p.Asn697Lys)
NM_198859.4(PRICKLE2):c.2114G>A (p.Arg705His) rs760877594
NM_198859.4(PRICKLE2):c.2119G>A (p.Ala707Thr) rs2471101233
NM_198859.4(PRICKLE2):c.2121C>G (p.Ala707=) rs1278527320
NM_198859.4(PRICKLE2):c.2121C>T (p.Ala707=) rs1278527320
NM_198859.4(PRICKLE2):c.2123T>A (p.Ile708Asn) rs2076618722
NM_198859.4(PRICKLE2):c.2126C>T (p.Ser709Phe) rs1559505915
NM_198859.4(PRICKLE2):c.2127C>T (p.Ser709=) rs2106935376
NM_198859.4(PRICKLE2):c.2129G>T (p.Arg710Leu) rs772696632
NM_198859.4(PRICKLE2):c.2145C>G (p.Pro715=)
NM_198859.4(PRICKLE2):c.215G>A (p.Arg72Gln) rs1559550002
NM_198859.4(PRICKLE2):c.2160G>A (p.Arg720=) rs1003980147
NM_198859.4(PRICKLE2):c.2164G>A (p.Asp722Asn) rs1238453786
NM_198859.4(PRICKLE2):c.2172C>T (p.Asp724=) rs2076617859
NM_198859.4(PRICKLE2):c.2173C>A (p.Gln725Lys) rs2471101149
NM_198859.4(PRICKLE2):c.2182C>T (p.Arg728Cys) rs780553569
NM_198859.4(PRICKLE2):c.2183G>T (p.Arg728Leu) rs201590577
NM_198859.4(PRICKLE2):c.2184C>A (p.Arg728=) rs1262461948
NM_198859.4(PRICKLE2):c.2188C>T (p.Arg730Trp) rs2076617456
NM_198859.4(PRICKLE2):c.2218T>C (p.Ser740Pro)
NM_198859.4(PRICKLE2):c.2220C>T (p.Ser740=) rs867670809
NM_198859.4(PRICKLE2):c.2237G>T (p.Gly746Val) rs1248829595
NM_198859.4(PRICKLE2):c.2244C>T (p.Cys748=) rs2106935117
NM_198859.4(PRICKLE2):c.2245C>G (p.Pro749Ala) rs2106935115
NM_198859.4(PRICKLE2):c.225G>A (p.Gln75=) rs1575606617
NM_198859.4(PRICKLE2):c.2266G>A (p.Ala756Thr) rs2471101016
NM_198859.4(PRICKLE2):c.2273A>C (p.Gln758Pro) rs2106935074
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.2296G>A (p.Gly766Arg) rs1389909262
NM_198859.4(PRICKLE2):c.2297G>T (p.Gly766Val) rs746999335
NM_198859.4(PRICKLE2):c.2313_2318del (p.Glu771_Tyr772del)
NM_198859.4(PRICKLE2):c.2322G>C (p.Trp774Cys)
NM_198859.4(PRICKLE2):c.2327C>G (p.Ser776Cys) rs2076614473
NM_198859.4(PRICKLE2):c.2343T>C (p.Ser781=) rs1348100945
NM_198859.4(PRICKLE2):c.234C>G (p.His78Gln) rs755337354
NM_198859.4(PRICKLE2):c.2357A>G (p.Asn786Ser) rs775899030
NM_198859.4(PRICKLE2):c.2358C>G (p.Asn786Lys) rs765451868
NM_198859.4(PRICKLE2):c.2381C>A (p.Pro794His) rs2471100475
NM_198859.4(PRICKLE2):c.2426T>G (p.Leu809Arg) rs2106934819
NM_198859.4(PRICKLE2):c.2445C>T (p.Ser815=) rs1346052915
NM_198859.4(PRICKLE2):c.2455C>T (p.Pro819Ser) rs972442832
NM_198859.4(PRICKLE2):c.2457C>G (p.Pro819=) rs1324717403
NM_198859.4(PRICKLE2):c.2464T>C (p.Ser822Pro)
NM_198859.4(PRICKLE2):c.246A>G (p.Pro82=)
NM_198859.4(PRICKLE2):c.2473G>C (p.Gly825Arg) rs2106934728
NM_198859.4(PRICKLE2):c.2477G>A (p.Gly826Asp)
NM_198859.4(PRICKLE2):c.2493C>T (p.His831=) rs2106934707
NM_198859.4(PRICKLE2):c.2517A>G (p.Lys839=) rs760403363
NM_198859.4(PRICKLE2):c.258+13A>C
NM_198859.4(PRICKLE2):c.258+5G>A rs1368875653
NM_198859.4(PRICKLE2):c.258+8del rs2471182017
NM_198859.4(PRICKLE2):c.259-12G>T rs751516474
NM_198859.4(PRICKLE2):c.263G>A (p.Arg88Gln) rs1461035063
NM_198859.4(PRICKLE2):c.288A>G (p.Glu96=)
NM_198859.4(PRICKLE2):c.308T>C (p.Leu103Pro) rs2077706388
NM_198859.4(PRICKLE2):c.30G>A (p.Glu10=) rs2471230414
NM_198859.4(PRICKLE2):c.340G>A (p.Gly114Ser)
NM_198859.4(PRICKLE2):c.343C>T (p.Arg115Cys) rs752616529
NM_198859.4(PRICKLE2):c.346G>A (p.Gly116Arg)
NM_198859.4(PRICKLE2):c.352G>A (p.Val118Ile) rs2107039561
NM_198859.4(PRICKLE2):c.356G>C (p.Arg119Thr) rs2077705419
NM_198859.4(PRICKLE2):c.366A>C (p.Pro122=) rs1248570551
NM_198859.4(PRICKLE2):c.374T>C (p.Met125Thr)
NM_198859.4(PRICKLE2):c.379G>A (p.Gly127Arg)
NM_198859.4(PRICKLE2):c.380del (p.Gly127fs) rs797045065
NM_198859.4(PRICKLE2):c.384_385delinsCT (p.Ile129Phe) rs2107039475
NM_198859.4(PRICKLE2):c.391G>A (p.Glu131Lys) rs1334482107
NM_198859.4(PRICKLE2):c.396+19G>A rs781500686
NM_198859.4(PRICKLE2):c.396+19G>T rs781500686
NM_198859.4(PRICKLE2):c.396+5G>A rs2107039424
NM_198859.4(PRICKLE2):c.397-7C>T rs1575600608
NM_198859.4(PRICKLE2):c.39C>G (p.Ile13Met) rs750551862
NM_198859.4(PRICKLE2):c.40A>G (p.Ser14Gly)
NM_198859.4(PRICKLE2):c.413A>T (p.Asn138Ile) rs1247504361
NM_198859.4(PRICKLE2):c.423C>A (p.Asp141Glu) rs762381874
NM_198859.4(PRICKLE2):c.423C>T (p.Asp141=)
NM_198859.4(PRICKLE2):c.432G>A (p.Val144=)
NM_198859.4(PRICKLE2):c.438G>T (p.Ala146=)
NM_198859.4(PRICKLE2):c.445G>A (p.Ala149Thr) rs202025796
NM_198859.4(PRICKLE2):c.447T>A (p.Ala149=) rs2107034706
NM_198859.4(PRICKLE2):c.461G>T (p.Cys154Phe) rs1553644844
NM_198859.4(PRICKLE2):c.479T>G (p.Phe160Cys) rs2471173322
NM_198859.4(PRICKLE2):c.489T>G (p.Thr163=) rs2107034580
NM_198859.4(PRICKLE2):c.490G>A (p.Val164Ile) rs886058801
NM_198859.4(PRICKLE2):c.49A>G (p.Met17Val) rs762452354
NM_198859.4(PRICKLE2):c.504C>T (p.Leu168=) rs1362874246
NM_198859.4(PRICKLE2):c.50T>G (p.Met17Arg) rs2471230378
NM_198859.4(PRICKLE2):c.541A>T (p.Ile181Leu) rs1047934663
NM_198859.4(PRICKLE2):c.545A>T (p.Tyr182Phe) rs1553644782
NM_198859.4(PRICKLE2):c.561T>C (p.His187=) rs2471173173
NM_198859.4(PRICKLE2):c.569G>A (p.Cys190Tyr)
NM_198859.4(PRICKLE2):c.578C>T (p.Pro193Leu) rs371799409
NM_198859.4(PRICKLE2):c.581G>A (p.Arg194His) rs1553644768
NM_198859.4(PRICKLE2):c.585T>C (p.Cys195=) rs2077648753
NM_198859.4(PRICKLE2):c.586G>A (p.Ala196Thr) rs2077648699
NM_198859.4(PRICKLE2):c.589G>A (p.Ala197Thr) rs2107034360
NM_198859.4(PRICKLE2):c.601-19T>G
NM_198859.4(PRICKLE2):c.607T>C (p.Phe203Leu) rs2471167075
NM_198859.4(PRICKLE2):c.633G>A (p.Glu211=) rs2471167056
NM_198859.4(PRICKLE2):c.649A>G (p.Met217Val) rs2077576258
NM_198859.4(PRICKLE2):c.653A>G (p.Lys218Arg) rs2077576224
NM_198859.4(PRICKLE2):c.661T>C (p.Cys221Arg) rs2471167019
NM_198859.4(PRICKLE2):c.670G>A (p.Glu224Lys) rs1199006668
NM_198859.4(PRICKLE2):c.683T>C (p.Val228Ala) rs2077575900
NM_198859.4(PRICKLE2):c.698G>C (p.Arg233Pro)
NM_198859.4(PRICKLE2):c.708G>C (p.Met236Ile) rs2077575497
NM_198859.4(PRICKLE2):c.714G>A (p.Glu238=) rs941704858
NM_198859.4(PRICKLE2):c.721C>A (p.Pro241Thr) rs2077575277
NM_198859.4(PRICKLE2):c.733C>A (p.His245Asn) rs2471166935
NM_198859.4(PRICKLE2):c.741C>G (p.Phe247Leu) rs763876127
NM_198859.4(PRICKLE2):c.742G>A (p.Glu248Lys)
NM_198859.4(PRICKLE2):c.762T>C (p.Tyr254=) rs2077574651
NM_198859.4(PRICKLE2):c.780A>G (p.Gln260=) rs2077574444
NM_198859.4(PRICKLE2):c.781C>T (p.His261Tyr) rs2107026575
NM_198859.4(PRICKLE2):c.787+16G>T
NM_198859.4(PRICKLE2):c.788-28_788-20del rs765150078
NM_198859.4(PRICKLE2):c.788-6T>G rs180903875
NM_198859.4(PRICKLE2):c.793G>A (p.Asp265Asn) rs1312810720
NM_198859.4(PRICKLE2):c.810C>G (p.Thr270=)
NM_198859.4(PRICKLE2):c.843C>A (p.Thr281=) rs2107016324
NM_198859.4(PRICKLE2):c.860A>G (p.His287Arg) rs1201078531
NM_198859.4(PRICKLE2):c.883C>T (p.Arg295Trp)
NM_198859.4(PRICKLE2):c.894C>A (p.Leu298=) rs372232760
NM_198859.4(PRICKLE2):c.896C>T (p.Pro299Leu) rs1342755436
NM_198859.4(PRICKLE2):c.906C>A (p.Gly302=) rs369079932
NM_198859.4(PRICKLE2):c.906C>G (p.Gly302=) rs369079932
NM_198859.4(PRICKLE2):c.907C>G (p.Gln303Glu)
NM_198859.4(PRICKLE2):c.913T>G (p.Phe305Val) rs2077478096
NM_198859.4(PRICKLE2):c.920C>G (p.Ser307Ter) rs2077478027
NM_198859.4(PRICKLE2):c.97G>T (p.Ala33Ser) rs2471230304
NM_198859.4(PRICKLE2):c.983A>G (p.Asn328Ser) rs2107016123
NM_198859.4(PRICKLE2):c.985G>C (p.Ala329Pro) rs1447125975
NM_198859.4(PRICKLE2):c.98C>G (p.Ala33Gly) rs2078512537
NM_198859.4(PRICKLE2):c.98C>T (p.Ala33Val) rs2078512537
NM_198859.4(PRICKLE2):c.991G>A (p.Ala331Thr) rs1406891675
NM_198859.4(PRICKLE2):c.991G>C (p.Ala331Pro) rs1406891675

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.