ClinVar Miner

List of variants in gene PRICKLE1 reported as uncertain significance for Unverricht-Lundborg syndrome

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP
NC_000012.11:g.(?_42853591)_(42866338_?)dup
NM_153026.3(PRICKLE1):c.*1044C>T rs543795157
NM_153026.3(PRICKLE1):c.*1047C>T rs11181513
NM_153026.3(PRICKLE1):c.*1218G>A rs886049371
NM_153026.3(PRICKLE1):c.*1292T>C rs886049370
NM_153026.3(PRICKLE1):c.*142G>A rs886049374
NM_153026.3(PRICKLE1):c.*233C>T rs886049373
NM_153026.3(PRICKLE1):c.*430C>G rs141738298
NM_153026.3(PRICKLE1):c.*46G>C rs147122337
NM_153026.3(PRICKLE1):c.*546A>C rs767986403
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.*70G>A rs759888600
NM_153026.3(PRICKLE1):c.*715G>T rs147942021
NM_153026.3(PRICKLE1):c.*897G>A rs368596743
NM_153026.3(PRICKLE1):c.*983C>A rs73126459
NM_153026.3(PRICKLE1):c.-142G>A rs886049377
NM_153026.3(PRICKLE1):c.-204G>A rs548377394
NM_153026.3(PRICKLE1):c.-213G>C rs557557453
NM_153026.3(PRICKLE1):c.-238C>G rs886049378
NM_153026.3(PRICKLE1):c.-246G>A rs886049379
NM_153026.3(PRICKLE1):c.-279_-277dup rs886049380
NM_153026.3(PRICKLE1):c.-287C>G rs886049381
NM_153026.3(PRICKLE1):c.-33G>A rs377567620
NM_153026.3(PRICKLE1):c.-40G>A rs370363439
NM_153026.3(PRICKLE1):c.1004G>A (p.Arg335Gln) rs757911190
NM_153026.3(PRICKLE1):c.1022G>A (p.Arg341Gln)
NM_153026.3(PRICKLE1):c.1072T>G (p.Tyr358Asp) rs886049376
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.1145G>A (p.Arg382Lys) rs748636455
NM_153026.3(PRICKLE1):c.1222T>C (p.Trp408Arg) rs376384105
NM_153026.3(PRICKLE1):c.1225G>A (p.Ala409Thr) rs774422189
NM_153026.3(PRICKLE1):c.1247C>T (p.Thr416Met) rs151332996
NM_153026.3(PRICKLE1):c.1255C>T (p.Leu419Phe)
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+15G>T rs778854960
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1639+5G>A rs201450953
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.1676C>T (p.Ser559Leu) rs771584708
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.2012A>T (p.His671Leu) rs1555229335
NM_153026.3(PRICKLE1):c.206T>C (p.Ile69Thr)
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.2212A>G (p.Thr738Ala) rs886049375
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760
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.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.2473G>A (p.Gly825Ser) rs1555229171
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131
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.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.445G>A (p.Val149Met)
NM_153026.3(PRICKLE1):c.448T>C (p.Cys150Arg) rs1566084587
NM_153026.3(PRICKLE1):c.47G>A (p.Cys16Tyr) rs746768839
NM_153026.3(PRICKLE1):c.509A>G (p.Tyr170Cys)
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.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.914C>T (p.Thr305Met)
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.992G>A (p.Arg331Gln) rs778192552

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