ClinVar Miner

List of variants in gene PRICKLE1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 93
Download table as spreadsheet
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.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.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.132+180A>G rs60876833 0.00605
NM_153026.3(PRICKLE1):c.246+230C>T rs111539888 0.00598
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.2269G>A (p.Glu757Lys) rs145860632 0.00037
NM_153026.3(PRICKLE1):c.2439G>A (p.Arg813=) rs138524511 0.00022
NM_153026.3(PRICKLE1):c.1547G>C (p.Trp516Ser) rs139901494 0.00014
NM_153026.3(PRICKLE1):c.25A>G (p.Met9Val) rs566073131 0.00012
NM_153026.3(PRICKLE1):c.1601G>A (p.Arg534Gln) rs756192425 0.00011
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.113C>T (p.Pro38Leu) rs145493619 0.00010
NM_153026.3(PRICKLE1):c.2194G>A (p.Gly732Arg) rs150287042 0.00007
NM_153026.3(PRICKLE1):c.649T>C (p.Cys217Arg) rs772276749 0.00006
NM_153026.3(PRICKLE1):c.703G>A (p.Gly235Ser) rs375197568 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.1942C>G (p.Arg648Gly) rs370129051 0.00004
NM_153026.3(PRICKLE1):c.431G>A (p.Arg144His) rs281865563 0.00004
NM_153026.3(PRICKLE1):c.1676C>T (p.Ser559Leu) rs771584708 0.00003
NM_153026.3(PRICKLE1):c.2027G>A (p.Arg676Gln) rs377294908 0.00003
NM_153026.3(PRICKLE1):c.2224G>A (p.Gly742Ser) rs370967125 0.00003
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.434C>T (p.Ala145Val) rs765119777 0.00002
NM_153026.3(PRICKLE1):c.626G>A (p.Arg209His) rs758400992 0.00002
NM_153026.3(PRICKLE1):c.100G>A (p.Ala34Thr) rs781255236 0.00001
NM_153026.3(PRICKLE1):c.1318A>G (p.Ser440Gly) rs1566080286 0.00001
NM_153026.3(PRICKLE1):c.1324C>T (p.His442Tyr) rs1420840004 0.00001
NM_153026.3(PRICKLE1):c.1393A>G (p.Lys465Glu) rs780931107 0.00001
NM_153026.3(PRICKLE1):c.1435G>A (p.Gly479Arg) rs570770626 0.00001
NM_153026.3(PRICKLE1):c.1444G>A (p.Asp482Asn) rs1555229983 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.1922G>A (p.Gly641Glu) rs374621616 0.00001
NM_153026.3(PRICKLE1):c.2002T>A (p.Ser668Thr) rs794727934 0.00001
NM_153026.3(PRICKLE1):c.2037A>C (p.Arg679Ser) rs1057520141 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.2266G>A (p.Gly756Ser) rs777019107 0.00001
NM_153026.3(PRICKLE1):c.2330A>G (p.Tyr777Cys) rs768039518 0.00001
NM_153026.3(PRICKLE1):c.668C>T (p.Thr223Met) rs754218148 0.00001
GRCh37/hg19 12q12(chr12:42856396-42912131)x3
GRCh37/hg19 12q12(chr12:42865874-42899909)x3
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.1640-234CAAAA[2] rs202051844
NM_153026.3(PRICKLE1):c.1699GAG[1] (p.Glu568del) rs1413929405
NM_153026.3(PRICKLE1):c.1960G>A (p.Glu654Lys) rs1555229356
NM_153026.3(PRICKLE1):c.2043C>T (p.Ser681=) rs1555229314
NM_153026.3(PRICKLE1):c.2167G>A (p.Ala723Thr) rs796052933
NM_153026.3(PRICKLE1):c.2275G>A (p.Asp759Asn) rs886042287
NM_153026.3(PRICKLE1):c.2287T>A (p.Cys763Ser)
NM_153026.3(PRICKLE1):c.2288G>A (p.Cys763Tyr) rs886044288
NM_153026.3(PRICKLE1):c.384+6C>A rs764025084
NM_153026.3(PRICKLE1):c.425C>T (p.Ala142Val) rs796052928
NM_153026.3(PRICKLE1):c.713T>C (p.Phe238Ser) rs796052930

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.