ClinVar Miner

List of variants in gene PRICKLE2 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: 116
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.*3864T>C rs544825776 0.00560
NM_198859.4(PRICKLE2):c.-370G>A rs139238137 0.00356
NM_198859.4(PRICKLE2):c.*560T>A rs528463950 0.00238
NM_198859.4(PRICKLE2):c.-482A>G rs143342419 0.00219
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
NM_198859.4(PRICKLE2):c.*4994C>T rs190966782 0.00089
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_198859.4(PRICKLE2):c.*3632T>C rs140681630 0.00063
NM_198859.4(PRICKLE2):c.*4472G>T rs575410668 0.00059
NM_198859.4(PRICKLE2):c.*2290T>C rs192971326 0.00048
NM_198859.4(PRICKLE2):c.-258C>T rs1044268884 0.00048
NM_198859.4(PRICKLE2):c.*1868G>C rs886058791 0.00036
NM_198859.4(PRICKLE2):c.*3830T>C rs574878914 0.00032
NM_198859.4(PRICKLE2):c.*3755A>G rs756531877 0.00029
NM_198859.4(PRICKLE2):c.*3116C>T rs1045343958 0.00026
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942 0.00023
NM_198859.4(PRICKLE2):c.-146G>A rs539401922 0.00021
NM_198859.4(PRICKLE2):c.*3325G>A rs531639386 0.00018
NM_198859.4(PRICKLE2):c.*1991C>T rs570616523 0.00017
NM_198859.4(PRICKLE2):c.*2475G>A rs905971725 0.00014
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00014
NM_198859.4(PRICKLE2):c.*690G>A rs779719872 0.00013
NM_198859.4(PRICKLE2):c.-447C>T rs886058806 0.00013
NM_198859.4(PRICKLE2):c.445G>T (p.Ala149Ser) rs202025796 0.00013
NM_198859.4(PRICKLE2):c.*3504C>T rs538054092 0.00012
NM_198859.4(PRICKLE2):c.*469G>T rs148724634 0.00012
NM_198859.4(PRICKLE2):c.594C>T (p.Cys198=) rs367680077 0.00012
NM_198859.4(PRICKLE2):c.*1982A>G rs377752523 0.00011
NM_198859.4(PRICKLE2):c.*1568C>T rs558482444 0.00010
NM_198859.4(PRICKLE2):c.*4769A>G rs981163962 0.00010
NM_198859.4(PRICKLE2):c.*5092T>C rs1056419773 0.00009
NM_198859.4(PRICKLE2):c.1602G>A (p.Thr534=) rs144757200 0.00009
NM_198859.4(PRICKLE2):c.*146C>T rs142263776 0.00007
NM_198859.4(PRICKLE2):c.*65G>A rs575414554 0.00007
NM_198859.4(PRICKLE2):c.-122G>T rs536662179 0.00006
NM_198859.4(PRICKLE2):c.1639C>A (p.Leu547Met) rs368904012 0.00006
NM_198859.4(PRICKLE2):c.*3672C>G rs904907709 0.00004
NM_198859.4(PRICKLE2):c.-285A>T rs886058803 0.00004
NM_198859.4(PRICKLE2):c.345C>T (p.Arg115=) rs148888682 0.00004
NM_198859.4(PRICKLE2):c.*2909T>A rs545276442 0.00003
NM_198859.4(PRICKLE2):c.*4109C>G rs886058784 0.00003
NM_198859.4(PRICKLE2):c.*4455A>G rs746249344 0.00003
NM_198859.4(PRICKLE2):c.-271A>G rs886058802 0.00003
NM_198859.4(PRICKLE2):c.-363G>A rs569115082 0.00003
NM_198859.4(PRICKLE2):c.1048C>T (p.Pro350Ser) rs771168722 0.00003
NM_198859.4(PRICKLE2):c.1535G>A (p.Gly512Asp) rs772691573 0.00003
NM_198859.4(PRICKLE2):c.*1114C>T rs752334583 0.00002
NM_198859.4(PRICKLE2):c.*1633G>A rs1405669224 0.00002
NM_198859.4(PRICKLE2):c.*3540C>T rs977486642 0.00002
NM_198859.4(PRICKLE2):c.*4531T>C rs1404217716 0.00002
NM_198859.4(PRICKLE2):c.-371C>T rs886058805 0.00002
NM_198859.4(PRICKLE2):c.123G>A (p.Pro41=) rs727504106 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.*1292A>G rs934193331 0.00001
NM_198859.4(PRICKLE2):c.*1495T>C rs879297640 0.00001
NM_198859.4(PRICKLE2):c.*2089C>T rs577636282 0.00001
NM_198859.4(PRICKLE2):c.*4071A>G rs886058785 0.00001
NM_198859.4(PRICKLE2):c.*4196T>G rs1389084658 0.00001
NM_198859.4(PRICKLE2):c.*4330A>T rs538069337 0.00001
NM_198859.4(PRICKLE2):c.*943G>T rs953505615 0.00001
NM_198859.4(PRICKLE2):c.-13C>G rs750990245 0.00001
NM_198859.4(PRICKLE2):c.1169G>A (p.Arg390Gln) rs773493989 0.00001
NM_198859.4(PRICKLE2):c.1334A>C (p.His445Pro) rs1162884450 0.00001
NM_198859.4(PRICKLE2):c.2092G>A (p.Ala698Thr) rs763974341 0.00001
NM_198859.4(PRICKLE2):c.2213A>G (p.His738Arg) rs766757910 0.00001
NM_198859.4(PRICKLE2):c.490G>T (p.Val164Phe) rs886058801 0.00001
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417 0.00001
NM_198859.4(PRICKLE2):c.*1157G>C rs764784009
NM_198859.4(PRICKLE2):c.*1274C>T rs952345194
NM_198859.4(PRICKLE2):c.*1476A>G rs886058793
NM_198859.4(PRICKLE2):c.*1508A>G rs2076588182
NM_198859.4(PRICKLE2):c.*1560C>T rs886058792
NM_198859.4(PRICKLE2):c.*1621A>G rs2076586727
NM_198859.4(PRICKLE2):c.*1647T>A rs2076586208
NM_198859.4(PRICKLE2):c.*1682C>T rs938048041
NM_198859.4(PRICKLE2):c.*1964C>T rs886058790
NM_198859.4(PRICKLE2):c.*1970T>C rs886058789
NM_198859.4(PRICKLE2):c.*2102G>A rs2076579772
NM_198859.4(PRICKLE2):c.*2207C>T rs886058788
NM_198859.4(PRICKLE2):c.*2288C>T rs866060288
NM_198859.4(PRICKLE2):c.*2288_*2296delinsT rs386661734
NM_198859.4(PRICKLE2):c.*2391C>T rs184544359
NM_198859.4(PRICKLE2):c.*2666G>T rs2076573078
NM_198859.4(PRICKLE2):c.*2782C>G rs530804190
NM_198859.4(PRICKLE2):c.*2856C>G rs886058787
NM_198859.4(PRICKLE2):c.*2980_*2981dup rs759645403
NM_198859.4(PRICKLE2):c.*3065C>A rs1345198796
NM_198859.4(PRICKLE2):c.*3343G>A rs911667034
NM_198859.4(PRICKLE2):c.*3358T>A rs2076562693
NM_198859.4(PRICKLE2):c.*3496G>A rs2076560882
NM_198859.4(PRICKLE2):c.*3501C>G rs1358772449
NM_198859.4(PRICKLE2):c.*3755A>T rs756531877
NM_198859.4(PRICKLE2):c.*3862C>A rs886058786
NM_198859.4(PRICKLE2):c.*4182T>C rs2076548758
NM_198859.4(PRICKLE2):c.*4257T>C rs886058783
NM_198859.4(PRICKLE2):c.*4595T>A rs886058782
NM_198859.4(PRICKLE2):c.*4787T>C rs886058781
NM_198859.4(PRICKLE2):c.*4861dup rs571451772
NM_198859.4(PRICKLE2):c.*4877C>T rs750274826
NM_198859.4(PRICKLE2):c.*580del rs370988517
NM_198859.4(PRICKLE2):c.*581dup rs886058797
NM_198859.4(PRICKLE2):c.*582A>T rs886058796
NM_198859.4(PRICKLE2):c.*584del rs886058795
NM_198859.4(PRICKLE2):c.*792dup rs535354956
NM_198859.4(PRICKLE2):c.*995C>A rs886058794
NM_198859.4(PRICKLE2):c.-219A>G rs2079012814
NM_198859.4(PRICKLE2):c.-287A>G rs867607794
NM_198859.4(PRICKLE2):c.-320A>C rs886058804
NM_198859.4(PRICKLE2):c.-89G>C rs901964486
NM_198859.4(PRICKLE2):c.1263G>T (p.Gln421His) rs2077471398
NM_198859.4(PRICKLE2):c.1317C>T (p.Pro439=) rs745530308
NM_198859.4(PRICKLE2):c.1675G>A (p.Gly559Ser) rs886058799
NM_198859.4(PRICKLE2):c.1752T>A (p.Ser584=) rs886058798
NM_198859.4(PRICKLE2):c.2100C>G (p.His700Gln) rs2076619261
NM_198859.4(PRICKLE2):c.531A>G (p.Gln177=) rs780089157

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