ClinVar Miner

List of variants in gene PRICKLE1 reported as likely benign for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 130
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321 0.00039
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511 0.00022
NM_153026.3(PRICKLE1):c.775+20G>A rs190710237 0.00021
NM_153026.3(PRICKLE1):c.246+11A>T rs138597448 0.00017
NM_153026.3(PRICKLE1):c.1608G>A (p.Ser536=) rs144062651 0.00016
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593 0.00013
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219 0.00011
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485 0.00011
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820 0.00011
NM_153026.3(PRICKLE1):c.113C>T (p.Pro38Leu) rs145493619 0.00010
NM_153026.3(PRICKLE1):c.399A>C (p.Ile133=) rs775864936 0.00010
NM_153026.3(PRICKLE1):c.189C>T (p.Pro63=) rs750059541 0.00009
NM_153026.3(PRICKLE1):c.2202C>T (p.Tyr734=) rs570186739 0.00009
NM_153026.3(PRICKLE1):c.2316G>A (p.Ser772=) rs143240342 0.00009
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979 0.00008
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042 0.00007
NM_153026.3(PRICKLE1):c.1443C>T (p.Gly481=) rs376123082 0.00006
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=) rs748556304 0.00006
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 0.00006
NM_153026.3(PRICKLE1):c.588+18C>T rs777295798 0.00005
NM_153026.3(PRICKLE1):c.198G>A (p.Lys66=) rs1256250717 0.00004
NM_153026.3(PRICKLE1):c.2487T>C (p.Ile829=) rs376858650 0.00004
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383 0.00004
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=) rs756787066 0.00003
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=) rs148989635 0.00003
NM_153026.3(PRICKLE1):c.612A>C (p.Thr204=) rs755994241 0.00003
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=) rs772484365 0.00002
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
NM_153026.3(PRICKLE1):c.447G>A (p.Val149=) rs561240990 0.00002
NM_153026.3(PRICKLE1):c.99C>T (p.Tyr33=) rs764986581 0.00002
NM_153026.3(PRICKLE1):c.1284T>C (p.Phe428=) rs183742526 0.00001
NM_153026.3(PRICKLE1):c.1341C>T (p.Asn447=) rs759563559 0.00001
NM_153026.3(PRICKLE1):c.1449T>C (p.Ser483=) rs760731193 0.00001
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=) rs774825872 0.00001
NM_153026.3(PRICKLE1):c.1639+15G>T rs778854960 0.00001
NM_153026.3(PRICKLE1):c.1640-7C>T rs1555229472 0.00001
NM_153026.3(PRICKLE1):c.1770G>A (p.Arg590=) rs1212454052 0.00001
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609 0.00001
NM_153026.3(PRICKLE1):c.1953G>C (p.Pro651=) rs766992928 0.00001
NM_153026.3(PRICKLE1):c.1977C>T (p.Arg659=) rs1405666356 0.00001
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067 0.00001
NM_153026.3(PRICKLE1):c.2472G>A (p.Lys824=) rs1937730741 0.00001
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=) rs1162360044 0.00001
NM_153026.3(PRICKLE1):c.384+17C>G rs752636804 0.00001
NM_153026.3(PRICKLE1):c.385-20T>G rs898970641 0.00001
NM_153026.3(PRICKLE1):c.423C>T (p.Phe141=) rs746728526 0.00001
NM_153026.3(PRICKLE1):c.669G>A (p.Thr223=) rs201394996 0.00001
NM_153026.3(PRICKLE1):c.702C>T (p.Asp234=) rs1054457480 0.00001
NM_153026.3(PRICKLE1):c.720T>C (p.Cys240=) rs374695088 0.00001
NM_153026.3(PRICKLE1):c.-122CGCAGCCC[3] rs561368128
NM_153026.3(PRICKLE1):c.108C>G (p.Val36=) rs147268650
NM_153026.3(PRICKLE1):c.1281C>T (p.Leu427=)
NM_153026.3(PRICKLE1):c.1311T>C (p.Ile437=) rs1938016409
NM_153026.3(PRICKLE1):c.132+18C>T
NM_153026.3(PRICKLE1):c.132+20A>G
NM_153026.3(PRICKLE1):c.132+20del
NM_153026.3(PRICKLE1):c.1323G>A (p.Glu441=)
NM_153026.3(PRICKLE1):c.133-5del rs1009731020
NM_153026.3(PRICKLE1):c.133-7_133-5del rs1009731020
NM_153026.3(PRICKLE1):c.133-9C>G
NM_153026.3(PRICKLE1):c.1362G>A (p.Glu454=)
NM_153026.3(PRICKLE1):c.1404G>A (p.Gln468=)
NM_153026.3(PRICKLE1):c.1440G>C (p.Leu480=) rs367822804
NM_153026.3(PRICKLE1):c.1470C>A (p.Gly490=) rs1213762995
NM_153026.3(PRICKLE1):c.1533T>C (p.His511=) rs1937999651
NM_153026.3(PRICKLE1):c.1557T>C (p.Asp519=)
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=) rs758126980
NM_153026.3(PRICKLE1):c.156A>G (p.Leu52=)
NM_153026.3(PRICKLE1):c.1596T>C (p.Ser532=) rs1937997691
NM_153026.3(PRICKLE1):c.1600C>A (p.Arg534=) rs936545109
NM_153026.3(PRICKLE1):c.1608G>T (p.Ser536=)
NM_153026.3(PRICKLE1):c.1623A>T (p.Ala541=) rs776141626
NM_153026.3(PRICKLE1):c.1629C>A (p.Ser543=) rs748556304
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1639+8_1639+20del rs1488350369
NM_153026.3(PRICKLE1):c.1640-12C>T
NM_153026.3(PRICKLE1):c.1640-20T>A rs2140088702
NM_153026.3(PRICKLE1):c.1640-9C>G
NM_153026.3(PRICKLE1):c.1653T>C (p.Asp551=)
NM_153026.3(PRICKLE1):c.1678T>C (p.Leu560=)
NM_153026.3(PRICKLE1):c.1686T>G (p.Ser562=) rs955717976
NM_153026.3(PRICKLE1):c.174T>G (p.Pro58=)
NM_153026.3(PRICKLE1):c.1800A>G (p.Ser600=)
NM_153026.3(PRICKLE1):c.1824G>T (p.Leu608=)
NM_153026.3(PRICKLE1):c.1851A>T (p.Pro617=) rs2140087611
NM_153026.3(PRICKLE1):c.1866C>G (p.Ser622=)
NM_153026.3(PRICKLE1):c.1875A>G (p.Gln625=)
NM_153026.3(PRICKLE1):c.1879A>C (p.Arg627=)
NM_153026.3(PRICKLE1):c.1884C>G (p.Pro628=)
NM_153026.3(PRICKLE1):c.1908T>C (p.Asp636=) rs2140087363
NM_153026.3(PRICKLE1):c.1944G>A (p.Arg648=) rs2140087181
NM_153026.3(PRICKLE1):c.1971G>A (p.Arg657=) rs2140086977
NM_153026.3(PRICKLE1):c.1989T>C (p.Phe663=) rs1555229340
NM_153026.3(PRICKLE1):c.2029A>C (p.Arg677=) rs2140086570
NM_153026.3(PRICKLE1):c.202C>A (p.Arg68=) rs1305368228
NM_153026.3(PRICKLE1):c.2091C>G (p.Pro697=)
NM_153026.3(PRICKLE1):c.2109G>C (p.Leu703=) rs955109457
NM_153026.3(PRICKLE1):c.2115C>T (p.Thr705=)
NM_153026.3(PRICKLE1):c.2118C>T (p.Pro706=)
NM_153026.3(PRICKLE1):c.2160G>A (p.Glu720=) rs1593099876
NM_153026.3(PRICKLE1):c.2229G>A (p.Leu743=) rs2140085472
NM_153026.3(PRICKLE1):c.234A>C (p.Pro78=)
NM_153026.3(PRICKLE1):c.2382T>C (p.Tyr794=) rs538043977
NM_153026.3(PRICKLE1):c.2388T>C (p.Asp796=) rs778528977
NM_153026.3(PRICKLE1):c.2403A>T (p.Pro801=) rs1434346670
NM_153026.3(PRICKLE1):c.2406A>G (p.Pro802=)
NM_153026.3(PRICKLE1):c.2406A>T (p.Pro802=)
NM_153026.3(PRICKLE1):c.246+20G>T
NM_153026.3(PRICKLE1):c.2475C>G (p.Gly825=) rs1593099130
NM_153026.3(PRICKLE1):c.372T>C (p.Ala124=) rs2140116274
NM_153026.3(PRICKLE1):c.384+11C>T
NM_153026.3(PRICKLE1):c.385-7T>C rs2140114516
NM_153026.3(PRICKLE1):c.391T>C (p.Leu131=)
NM_153026.3(PRICKLE1):c.444T>G (p.Gly148=) rs1060504780
NM_153026.3(PRICKLE1):c.489G>A (p.Glu163=) rs2140113843
NM_153026.3(PRICKLE1):c.498C>G (p.Val166=) rs1555230606
NM_153026.3(PRICKLE1):c.51G>A (p.Gln17=)
NM_153026.3(PRICKLE1):c.522T>C (p.Asp174=) rs2140113680
NM_153026.3(PRICKLE1):c.588+10del rs766626651
NM_153026.3(PRICKLE1):c.588+11G>C rs1566084330
NM_153026.3(PRICKLE1):c.588+17C>T
NM_153026.3(PRICKLE1):c.588+8A>G rs1413160382
NM_153026.3(PRICKLE1):c.589-9T>G rs2140106433
NM_153026.3(PRICKLE1):c.673C>T (p.Leu225=)
NM_153026.3(PRICKLE1):c.775+9_775+18del rs769446547
NM_153026.3(PRICKLE1):c.88T>C (p.Leu30=) rs2140124993

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