ClinVar Miner

List of variants in gene PRICKLE1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP
NM_153026.3(PRICKLE1):c.-14A>G rs200066556
NM_153026.3(PRICKLE1):c.-40G>A rs370363439
NM_153026.3(PRICKLE1):c.-48-137G>T rs113411095
NM_153026.3(PRICKLE1):c.-48-204G>A rs74781866
NM_153026.3(PRICKLE1):c.-48-293C>T rs117438114
NM_153026.3(PRICKLE1):c.-48-343C>T rs1037401
NM_153026.3(PRICKLE1):c.-49+19C>T rs568399443
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val) rs139176541
NM_153026.3(PRICKLE1):c.1023G>C (p.Arg341=) rs370013528
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650
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.1176T>C (p.Phe392=) rs571386763
NM_153026.3(PRICKLE1):c.1198G>C (p.Glu400Gln) rs796052931
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.132+122T>C rs2305422
NM_153026.3(PRICKLE1):c.132+313G>A rs1551210
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062
NM_153026.3(PRICKLE1):c.133-16A>C rs1057521443
NM_153026.3(PRICKLE1):c.133-75G>T rs77568691
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=) rs772484365
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) rs1555229983
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=) rs774825872
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr) rs796052932
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=) rs758126980
NM_153026.3(PRICKLE1):c.1629C>T (p.Ser543=) rs748556304
NM_153026.3(PRICKLE1):c.1639+168G>C rs2600924
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1639+60A>C rs58707767
NM_153026.3(PRICKLE1):c.1640-11C>T rs1057521602
NM_153026.3(PRICKLE1):c.1640-256C>G rs114719652
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013
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.1960G>A (p.Glu654Lys) rs1555229356
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) rs769599129
NM_153026.3(PRICKLE1):c.2064T>C (p.Asn688=) rs199893979
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=) rs756787066
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443
NM_153026.3(PRICKLE1):c.2127T>C (p.Tyr709=) rs1057521749
NM_153026.3(PRICKLE1):c.2167G>A (p.Ala723Thr) rs796052933
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321
NM_153026.3(PRICKLE1):c.2205C>T (p.Ala735=) rs1057523106
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.2262C>G (p.Leu754=) rs727504104
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=) rs148989635
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729
NM_153026.3(PRICKLE1):c.2310C>T (p.Ser770=) rs529575327
NM_153026.3(PRICKLE1):c.2330A>G (p.Tyr777Cys) rs768039518
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511
NM_153026.3(PRICKLE1):c.246+230C>T rs111539888
NM_153026.3(PRICKLE1):c.246+247C>T rs3213989
NM_153026.3(PRICKLE1):c.246+7T>C rs1370173390
NM_153026.3(PRICKLE1):c.247-10T>C rs1555230748
NM_153026.3(PRICKLE1):c.247-207A>T rs7952738
NM_153026.3(PRICKLE1):c.247-248_247-247insG rs3217624
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131
NM_153026.3(PRICKLE1):c.311G>A (p.Arg104Gln) rs113994140
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=) rs1162360044
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.385-119A>C rs2708062
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866
NM_153026.3(PRICKLE1):c.425C>T (p.Ala142Val) rs796052928
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383
NM_153026.3(PRICKLE1):c.471C>T (p.Val157=) rs201613485
NM_153026.3(PRICKLE1):c.480G>A (p.Thr160=) rs376385820
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707
NM_153026.3(PRICKLE1):c.588+10del rs766626651
NM_153026.3(PRICKLE1):c.588+123C>G rs2708061
NM_153026.3(PRICKLE1):c.588+17C>A rs1057522279
NM_153026.3(PRICKLE1):c.588+18C>T rs777295798
NM_153026.3(PRICKLE1):c.588+61A>T rs114395641
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593
NM_153026.3(PRICKLE1):c.684G>A (p.Gln228=) rs1555230332
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser) rs796052930
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200
NM_153026.3(PRICKLE1):c.775+19C>T rs1057520855
NM_153026.3(PRICKLE1):c.775+20G>A rs190710237
NM_153026.3(PRICKLE1):c.775+257G>A rs12229266
NM_153026.3(PRICKLE1):c.775+35T>C rs12230583
NM_153026.3(PRICKLE1):c.775+9_775+18del rs769446547
NM_153026.3(PRICKLE1):c.776-14C>T rs527292011
NM_153026.3(PRICKLE1):c.776-16A>G rs370970392
NM_153026.3(PRICKLE1):c.776-258C>G rs73273967
NM_153026.3(PRICKLE1):c.819C>T (p.His273=) rs763656364
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.8del (p.Leu3fs) rs754532709
NM_153026.3(PRICKLE1):c.910A>G (p.Lys304Glu) rs202205425
NM_153026.3(PRICKLE1):c.915G>A (p.Thr305=) rs150052192
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_153026.3(PRICKLE1):c.954C>T (p.Ser318=) rs139421676

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