ClinVar Miner

List of variants in gene PRICKLE1 studied for Progressive myoclonus epilepsy with ataxia

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Gene type:
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Total variants: 177
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HGVS dbSNP
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NM_153026.3(PRICKLE1):c.*142G>A rs886049374
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.-122_-115CGCAGCCC[3] rs561368128
NM_153026.3(PRICKLE1):c.-279_-277dup rs886049380
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) rs757911190
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln) rs577174749
NM_153026.3(PRICKLE1):c.1060C>T (p.Pro354Ser)
NM_153026.3(PRICKLE1):c.1088_1089delinsAT (p.Leu363His)
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.1137T>A (p.Ser379Arg)
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.1165A>G (p.Ser389Gly)
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.1243A>G (p.Met415Val) rs776720321
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe) rs1261183051
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526
NM_153026.3(PRICKLE1):c.1288C>T (p.Pro430Ser)
NM_153026.3(PRICKLE1):c.1298A>G (p.Asn433Ser)
NM_153026.3(PRICKLE1):c.1299T>G (p.Asn433Lys) rs779594296
NM_153026.3(PRICKLE1):c.1327T>C (p.Trp443Arg)
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062
NM_153026.3(PRICKLE1):c.1330A>C (p.Ile444Leu)
NM_153026.3(PRICKLE1):c.1342A>T (p.Met448Leu)
NM_153026.3(PRICKLE1):c.1358C>A (p.Thr453Asn)
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) rs777597253
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.1425G>T (p.Gln475His)
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) rs1555229983
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=) rs760731193
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.3(PRICKLE1):c.1511A>G (p.His504Arg)
NM_153026.3(PRICKLE1):c.1520C>T (p.Ser507Leu)
NM_153026.3(PRICKLE1):c.1522G>C (p.Gly508Arg)
NM_153026.3(PRICKLE1):c.1541C>T (p.Thr514Ile)
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494
NM_153026.3(PRICKLE1):c.1568G>A (p.Cys523Tyr)
NM_153026.3(PRICKLE1):c.1571_1573dup (p.Leu524dup)
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.1608G>A (p.Ser536=) rs144062651
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.1629C>T (p.Ser543=) rs748556304
NM_153026.3(PRICKLE1):c.1631A>G (p.Asn544Ser)
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953
NM_153026.3(PRICKLE1):c.1640-7C>T rs1555229472
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219
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) rs1593100814
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
NM_153026.3(PRICKLE1):c.1807T>C (p.Cys603Arg)
NM_153026.3(PRICKLE1):c.1826C>T (p.Pro609Leu)
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=) rs150809651
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609
NM_153026.3(PRICKLE1):c.1899T>G (p.Phe633Leu)
NM_153026.3(PRICKLE1):c.1922G>A (p.Gly641Glu) rs374621616
NM_153026.3(PRICKLE1):c.1954A>G (p.Met652Val)
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) rs769599129
NM_153026.3(PRICKLE1):c.1985_1996delinsG (p.Asn662fs)
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.2026C>T (p.Arg676Trp)
NM_153026.3(PRICKLE1):c.205A>G (p.Ile69Val)
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr) rs141795695
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.2104C>T (p.Arg702Trp) rs751021008
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443
NM_153026.3(PRICKLE1):c.2126A>G (p.Tyr709Cys)
NM_153026.3(PRICKLE1):c.2141_2142delinsTT (p.Gln714Leu)
NM_153026.3(PRICKLE1):c.214C>G (p.Leu72Val)
NM_153026.3(PRICKLE1):c.2155C>T (p.Arg719Trp) rs746199700
NM_153026.3(PRICKLE1):c.2156G>A (p.Arg719Gln)
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=) rs1593099876
NM_153026.3(PRICKLE1):c.2163C>G (p.Ile721Met)
NM_153026.3(PRICKLE1):c.2175C>G (p.Ile725Met) rs1555229265
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067
NM_153026.3(PRICKLE1):c.2192A>G (p.Tyr731Cys)
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042
NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=) rs570186739
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser) rs370967125
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522
NM_153026.3(PRICKLE1):c.2249G>A (p.Arg750Gln)
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.2276A>G (p.Asp759Gly)
NM_153026.3(PRICKLE1):c.2297C>T (p.Ser766Phe)
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.2359C>T (p.Arg787Trp) rs765199745
NM_153026.3(PRICKLE1):c.2380T>C (p.Tyr794His) rs201705679
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.2422C>A (p.Pro808Thr)
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.319G>C (p.Glu107Gln)
NM_153026.3(PRICKLE1):c.320A>C (p.Glu107Ala)
NM_153026.3(PRICKLE1):c.356G>C (p.Arg119Thr)
NM_153026.3(PRICKLE1):c.364A>G (p.Met122Val)
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.379_380insT (p.Glu127fs)
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.428C>T (p.Ser143Phe)
NM_153026.3(PRICKLE1):c.430C>T (p.Arg144Cys)
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_153026.3(PRICKLE1):c.433G>A (p.Ala145Thr)
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.445G>A (p.Val149Met) rs751791144
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.461C>T (p.Ser154Phe)
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.3(PRICKLE1):c.473del (p.Cys158fs)
NM_153026.3(PRICKLE1):c.479C>T (p.Thr160Met)
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) rs771717707
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.3(PRICKLE1):c.588+5A>C rs1593111486
NM_153026.3(PRICKLE1):c.601G>A (p.Asp201Asn)
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593
NM_153026.3(PRICKLE1):c.625C>T (p.Arg209Cys) rs777944504
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) rs758400992
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.703G>A (p.Gly235Ser) rs375197568
NM_153026.3(PRICKLE1):c.706C>T (p.Arg236Cys)
NM_153026.3(PRICKLE1):c.707G>T (p.Arg236Leu)
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.805G>A (p.Gly269Arg)
NM_153026.3(PRICKLE1):c.808C>A (p.Gln270Lys) rs752070986
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.898A>C (p.Ile300Leu)
NM_153026.3(PRICKLE1):c.914C>T (p.Thr305Met) rs375459191
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.977G>A (p.Arg326Gln)
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=) rs764986581
Single allele

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