ClinVar Miner

List of variants in gene PRICKLE1 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 107
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HGVS dbSNP gnomAD frequency
NM_153026.3(PRICKLE1):c.1639+168G>C rs2600924 0.97057
NM_153026.3(PRICKLE1):c.385-119A>C rs2708062 0.96174
NM_153026.3(PRICKLE1):c.588+123C>G rs2708061 0.96170
NM_153026.3(PRICKLE1):c.*91T>C rs1043652 0.66849
NM_153026.3(PRICKLE1):c.247-248_247-247insG rs3217624 0.60988
NM_153026.3(PRICKLE1):c.1902T>C (p.Ser634=) rs3747562 0.45408
NM_153026.3(PRICKLE1):c.132+313G>A rs1551210 0.33587
NM_153026.3(PRICKLE1):c.775+35T>C rs12230583 0.33216
NM_153026.3(PRICKLE1):c.246+247C>T rs3213989 0.32981
NM_153026.3(PRICKLE1):c.-49+129G>C rs2141929 0.32281
NM_153026.3(PRICKLE1):c.1899T>C (p.Phe633=) rs3747563 0.32044
NM_153026.3(PRICKLE1):c.*261T>C rs1043656 0.29697
NM_153026.3(PRICKLE1):c.132+122T>C rs2305422 0.14561
NM_153026.3(PRICKLE1):c.384+81G>C rs67217830 0.12223
NM_153026.3(PRICKLE1):c.247-127C>T rs67128387 0.08485
NM_153026.3(PRICKLE1):c.-48-343C>T rs1037401 0.06692
NM_153026.3(PRICKLE1):c.-181G>A rs117521428 0.05613
NM_153026.3(PRICKLE1):c.-48-293C>T rs117438114 0.05309
NM_153026.3(PRICKLE1):c.1639+60A>C rs58707767 0.04485
NM_153026.3(PRICKLE1):c.133-289del rs139520280 0.03434
NM_153026.3(PRICKLE1):c.585C>T (p.Asp195=) rs74081707 0.03104
NM_153026.3(PRICKLE1):c.133-284G>A rs113774118 0.02133
NM_153026.3(PRICKLE1):c.-48-204G>A rs74781866 0.01560
NM_153026.3(PRICKLE1):c.133-75G>T rs77568691 0.01494
NM_153026.3(PRICKLE1):c.247-207A>T rs7952738 0.01251
NM_153026.3(PRICKLE1):c.744G>A (p.Ala248=) rs34778200 0.01220
NM_153026.3(PRICKLE1):c.1640-256C>G rs114719652 0.00947
NM_153026.3(PRICKLE1):c.588+61A>T rs114395641 0.00945
NM_153026.3(PRICKLE1):c.2236C>T (p.Pro746Ser) rs3827522 0.00701
NM_153026.3(PRICKLE1):c.374T>C (p.Val125Ala) rs34837068 0.00631
NM_153026.3(PRICKLE1):c.132+180A>G rs60876833 0.00605
NM_153026.3(PRICKLE1):c.2304C>G (p.Ser768=) rs35854729 0.00598
NM_153026.3(PRICKLE1):c.246+230C>T rs111539888 0.00598
NM_153026.3(PRICKLE1):c.-49+19C>T rs568399443 0.00501
NM_153026.3(PRICKLE1):c.370G>A (p.Ala124Thr) rs79087668 0.00498
NM_153026.3(PRICKLE1):c.132+57T>C rs73273986 0.00483
NM_153026.3(PRICKLE1):c.775+216G>A rs139412822 0.00447
NM_153026.3(PRICKLE1):c.108C>T (p.Val36=) rs147268650 0.00376
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_153026.3(PRICKLE1):c.775+48G>A rs201989621 0.00154
NM_153026.3(PRICKLE1):c.177C>T (p.Tyr59=) rs144843013 0.00149
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153026.3(PRICKLE1):c.2071A>G (p.Thr691Ala) rs149496604 0.00075
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_153026.3(PRICKLE1):c.2193C>T (p.Tyr731=) rs137985321 0.00039
NM_153026.3(PRICKLE1):c.2269G>A (p.Glu757Lys) rs145860632 0.00037
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.1547G>C (p.Trp516Ser) rs139901494 0.00014
NM_153026.3(PRICKLE1):c.60C>A (p.Ser20=) rs370960593 0.00013
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131 0.00012
NM_153026.3(PRICKLE1):c.1647G>A (p.Ser549=) rs149518219 0.00011
NM_153026.3(PRICKLE1):c.391T>G (p.Leu131Val) rs35731866 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.-40G>A rs370363439 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.1629C>T (p.Ser543=) rs748556304 0.00006
NM_153026.3(PRICKLE1):c.132G>A (p.Gln44=) rs377668062 0.00005
NM_153026.3(PRICKLE1):c.2105G>A (p.Arg702Gln) rs369790443 0.00005
NM_153026.3(PRICKLE1):c.588+18C>T rs777295798 0.00005
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153026.3(PRICKLE1):c.435G>A (p.Ala145=) rs146650383 0.00004
NM_153026.3(PRICKLE1):c.-14A>G rs200066556 0.00003
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708 0.00003
NM_153026.3(PRICKLE1):c.1869G>A (p.Lys623=) rs150809651 0.00003
NM_153026.3(PRICKLE1):c.1985A>G (p.Asn662Ser) rs769599129 0.00003
NM_153026.3(PRICKLE1):c.2091C>T (p.Pro697=) rs756787066 0.00003
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser) rs370967125 0.00003
NM_153026.3(PRICKLE1):c.2265C>T (p.Tyr755=) rs148989635 0.00003
NM_153026.3(PRICKLE1):c.246+7T>C rs1370173390 0.00003
NM_153026.3(PRICKLE1):c.1359C>T (p.Thr453=) rs772484365 0.00002
NM_153026.3(PRICKLE1):c.1360G>A (p.Glu454Lys) rs748454609 0.00002
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
NM_153026.3(PRICKLE1):c.2310C>T (p.Ser770=) rs529575327 0.00002
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236 0.00001
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) rs1555229983 0.00001
NM_153026.3(PRICKLE1):c.1497A>G (p.Glu499=) rs774825872 0.00001
NM_153026.3(PRICKLE1):c.1516G>A (p.Ala506Thr) rs796052932 0.00001
NM_153026.3(PRICKLE1):c.1888C>G (p.Gln630Glu) rs200171609 0.00001
NM_153026.3(PRICKLE1):c.2045G>A (p.Arg682His) rs189093086 0.00001
NM_153026.3(PRICKLE1):c.2178G>A (p.Gln726=) rs1332245067 0.00001
NM_153026.3(PRICKLE1):c.2330A>G (p.Tyr777Cys) rs768039518 0.00001
NM_153026.3(PRICKLE1):c.36G>A (p.Leu12=) rs1162360044 0.00001
NM_153026.3(PRICKLE1):c.-48-10897G>A rs116954793
NM_153026.3(PRICKLE1):c.-48-137G>T rs113411095
NM_153026.3(PRICKLE1):c.101C>T (p.Ala34Val) rs139176541
NM_153026.3(PRICKLE1):c.133-16A>C rs1057521443
NM_153026.3(PRICKLE1):c.1563G>A (p.Leu521=) rs758126980
NM_153026.3(PRICKLE1):c.1639+3A>G rs550752320
NM_153026.3(PRICKLE1):c.1640-11C>T rs1057521602
NM_153026.3(PRICKLE1):c.1640-234CAAAA[2] rs202051844
NM_153026.3(PRICKLE1):c.1960G>A (p.Glu654Lys) rs1555229356
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.2205C>T (p.Ala735=) rs1057523106
NM_153026.3(PRICKLE1):c.425C>T (p.Ala142Val) rs796052928
NM_153026.3(PRICKLE1):c.588+10del rs766626651
NM_153026.3(PRICKLE1):c.588+17C>A rs1057522279
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.775+19C>T rs1057520855
NM_153026.3(PRICKLE1):c.775+9_775+18del rs769446547
NM_153026.3(PRICKLE1):c.8del (p.Leu3fs) rs754532709

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