ClinVar Miner

List of variants in gene PC reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 150
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001040716.2(PC):c.1022+154C>A rs45625436 0.04358
NM_001040716.2(PC):c.2224-9T>G rs45560936 0.03311
NM_001040716.2(PC):c.903+298T>G rs117910719 0.01537
NM_001040716.2(PC):c.1-237C>A rs142296495 0.01427
NM_001040716.2(PC):c.1-245G>C rs116480910 0.01387
NM_001040716.2(PC):c.2580C>T (p.Asp860=) rs45584036 0.01323
NM_001040716.2(PC):c.1825+22C>T rs45620032 0.01202
NM_001040716.2(PC):c.2619C>T (p.Asn873=) rs2229745 0.01182
NM_001040716.2(PC):c.1185+172G>A rs116177198 0.01092
NM_001040716.2(PC):c.752-153C>T rs114092976 0.00981
NM_001040716.2(PC):c.1368+142T>C rs7114229 0.00978
NM_001040716.2(PC):c.1022+283G>A rs6591224 0.00977
NM_001040716.2(PC):c.1023-231A>G rs114433027 0.00977
NM_001040716.2(PC):c.1368+294G>A rs112362874 0.00973
NM_001040716.2(PC):c.1185+111G>A rs45549542 0.00972
NM_001040716.2(PC):c.1023-33C>T rs116706384 0.00971
NM_001040716.2(PC):c.1983-92A>T rs115582831 0.00912
NM_001040716.2(PC):c.1983-91G>T rs75171422 0.00911
NM_001040716.2(PC):c.2249C>T (p.Thr750Met) rs145400751 0.00662
NM_001040716.2(PC):c.2682T>C (p.Tyr894=) rs56705397 0.00598
NM_001040716.2(PC):c.1514-51G>A rs141970908 0.00425
NM_001040716.2(PC):c.85G>A (p.Val29Ile) rs45471099 0.00394
NM_001040716.2(PC):c.1023-57C>T rs45589939 0.00392
NM_001040716.2(PC):c.321+5G>A rs200766019 0.00264
NM_001040716.2(PC):c.1608G>A (p.Pro536=) rs139074169 0.00210
NM_001040716.2(PC):c.*13C>T rs58032722 0.00173
NM_001040716.2(PC):c.1344G>A (p.Ala448=) rs148281644 0.00158
NM_001040716.2(PC):c.2223+19C>T rs45457699 0.00153
NM_001040716.2(PC):c.951C>T (p.His317=) rs142309583 0.00147
NM_001040716.2(PC):c.616G>T (p.Val206Leu) rs147945506 0.00126
NM_001040716.2(PC):c.*89G>A rs186152567 0.00123
NM_001040716.2(PC):c.1604-17G>A rs79317761 0.00103
NM_001040716.2(PC):c.1513+13del rs755170894 0.00099
NM_001040716.2(PC):c.3342G>A (p.Ala1114=) rs141978731 0.00088
NM_001040716.2(PC):c.52C>A (p.Arg18=) rs144583275 0.00086
NM_001040716.2(PC):c.904-17C>T rs199565222 0.00083
NM_001040716.2(PC):c.2550C>T (p.Cys850=) rs61749179 0.00080
NM_001040716.2(PC):c.1-35650G>A rs78739472 0.00061
NM_001040716.2(PC):c.496G>A (p.Val166Ile) rs147697454 0.00060
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_001040716.2(PC):c.3107G>A (p.Arg1036His) rs141237842 0.00057
NM_001040716.2(PC):c.486G>A (p.Ala162=) rs142416378 0.00041
NM_001040716.2(PC):c.3258C>G (p.Ser1086=) rs138238125 0.00039
NM_001040716.2(PC):c.1551C>T (p.Pro517=) rs140746469 0.00031
NM_001040716.2(PC):c.3198C>T (p.Ser1066=) rs144087445 0.00031
NM_001040716.2(PC):c.2577G>A (p.Ser859=) rs199879375 0.00029
NM_001040716.2(PC):c.1401C>T (p.Asn467=) rs45623237 0.00028
NM_001040716.2(PC):c.*15G>A rs45501894 0.00027
NM_001040716.2(PC):c.2325G>A (p.Thr775=) rs371093155 0.00026
NM_001040716.2(PC):c.2748C>T (p.Asp916=) rs149689543 0.00025
NM_001040716.2(PC):c.715A>G (p.Ile239Val) rs148805312 0.00024
NM_001040716.2(PC):c.1446C>T (p.Asp482=) rs145891535 0.00021
NM_001040716.2(PC):c.1683G>A (p.Pro561=) rs113071273 0.00019
NM_001040716.2(PC):c.2000A>C (p.Lys667Thr) rs138760063 0.00019
NM_001040716.2(PC):c.89G>A (p.Arg30Gln) rs199616332 0.00019
NM_001040716.2(PC):c.1702A>G (p.Thr568Ala) rs199969388 0.00016
NM_001040716.2(PC):c.786G>T (p.Glu262Asp) rs200030109 0.00015
NM_001040716.2(PC):c.190G>A (p.Val64Ile) rs35698729 0.00014
NM_001040716.2(PC):c.3341C>T (p.Ala1114Val) rs148492494 0.00014
NM_001040716.2(PC):c.571A>G (p.Ile191Val) rs141543771 0.00014
NM_001040716.2(PC):c.1575G>A (p.Thr525=) rs143833575 0.00013
NM_001040716.2(PC):c.843C>T (p.Ala281=) rs150040684 0.00012
NM_001040716.2(PC):c.1640G>A (p.Arg547Gln) rs142036463 0.00011
NM_001040716.2(PC):c.1771G>A (p.Ala591Thr) rs139795235 0.00011
NM_001040716.2(PC):c.2304G>C (p.Leu768=) rs61731787 0.00011
NM_001040716.2(PC):c.2783G>A (p.Arg928Gln) rs755385132 0.00011
NM_001040716.2(PC):c.3473G>A (p.Arg1158His) rs149054698 0.00011
NM_001040716.2(PC):c.322-10C>T rs371834866 0.00007
NM_001040716.2(PC):c.50G>A (p.Arg17His) rs375282341 0.00007
NM_001040716.2(PC):c.918C>T (p.Asn306=) rs372125858 0.00007
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln) rs113994145 0.00006
NM_001040716.2(PC):c.1368+11G>A rs371731636 0.00005
NM_001040716.2(PC):c.3171G>A (p.Thr1057=) rs147550265 0.00005
NM_001040716.2(PC):c.1370C>G (p.Thr457Ser) rs200676705 0.00004
NM_001040716.2(PC):c.1767G>T (p.Lys589Asn) rs143725101 0.00004
NM_001040716.2(PC):c.879C>T (p.Ser293=) rs183131461 0.00004
NM_001040716.2(PC):c.904-16G>A rs189690730 0.00004
NM_001040716.2(PC):c.1297G>A (p.Gly433Ser) rs908978048 0.00003
NM_001040716.2(PC):c.1519G>A (p.Val507Ile) rs555210692 0.00003
NM_001040716.2(PC):c.2076G>A (p.Ala692=) rs753064456 0.00003
NM_001040716.2(PC):c.3336C>T (p.Ile1112=) rs776196411 0.00003
NM_001040716.2(PC):c.3435G>T (p.Met1145Ile) rs201796252 0.00003
NM_001040716.2(PC):c.3514G>A (p.Asp1172Asn) rs568925019 0.00003
NM_001040716.2(PC):c.752-5C>T rs770994083 0.00003
NM_001040716.2(PC):c.1167G>A (p.Pro389=) rs556534486 0.00002
NM_001040716.2(PC):c.1718C>G (p.Ala573Gly) rs1372423236 0.00002
NM_001040716.2(PC):c.2127C>T (p.Asp709=) rs768324552 0.00002
NM_001040716.2(PC):c.3008C>T (p.Thr1003Met) rs145046106 0.00002
NM_001040716.2(PC):c.3033T>C (p.Ala1011=) rs139740019 0.00002
NM_001040716.2(PC):c.3242A>G (p.Asn1081Ser) rs745626388 0.00002
NM_001040716.2(PC):c.3409C>G (p.Leu1137Val) rs777927070 0.00002
NM_001040716.2(PC):c.1043del (p.Gln348fs) rs1064796030 0.00001
NM_001040716.2(PC):c.1082G>T (p.Gly361Val) rs377766602 0.00001
NM_001040716.2(PC):c.1173C>T (p.Thr391=) rs202135326 0.00001
NM_001040716.2(PC):c.1267G>A (p.Asp423Asn) rs1057524862 0.00001
NM_001040716.2(PC):c.1292C>G (p.Ala431Gly) rs796052031 0.00001
NM_001040716.2(PC):c.1471C>T (p.Arg491Trp) rs1190212614 0.00001
NM_001040716.2(PC):c.14G>A (p.Arg5Gln) rs753072659 0.00001
NM_001040716.2(PC):c.159C>T (p.Phe53=) rs749641310 0.00001
NM_001040716.2(PC):c.1613C>T (p.Pro538Leu) rs151174961 0.00001
NM_001040716.2(PC):c.1684G>C (p.Gly562Arg) rs746060650 0.00001
NM_001040716.2(PC):c.2167T>C (p.Tyr723His) rs1366191657 0.00001
NM_001040716.2(PC):c.2195G>A (p.Arg732Gln) rs773872994 0.00001
NM_001040716.2(PC):c.2224-18C>A rs768718604 0.00001
NM_001040716.2(PC):c.2657A>G (p.Lys886Arg) rs796052027 0.00001
NM_001040716.2(PC):c.2706C>T (p.Gly902=) rs73489729 0.00001
NM_001040716.2(PC):c.2754C>T (p.Ala918=) rs534275006 0.00001
NM_001040716.2(PC):c.2880C>T (p.Pro960=) rs549991937 0.00001
NM_001040716.2(PC):c.3288+20C>T rs750712278 0.00001
NM_001040716.2(PC):c.927C>T (p.Thr309=) rs373717650 0.00001
NM_001040716.2(PC):c.-228+18T>C rs1301376384
NM_001040716.2(PC):c.-228+9C>T rs1555053361
NM_001040716.2(PC):c.1-37A>C rs781186745
NM_001040716.2(PC):c.1023-14C>A rs111858832
NM_001040716.2(PC):c.1075G>A (p.Asp359Asn) rs780215837
NM_001040716.2(PC):c.1140C>A (p.Thr380=) rs369657359
NM_001040716.2(PC):c.1181T>C (p.Ile394Thr) rs1057520687
NM_001040716.2(PC):c.1185+5_1185+8del rs748620956
NM_001040716.2(PC):c.118G>C (p.Val40Leu) rs2135943669
NM_001040716.2(PC):c.1217G>A (p.Arg406His)
NM_001040716.2(PC):c.1486C>T (p.Arg496Trp) rs947957837
NM_001040716.2(PC):c.1513+28CCTCC[2] rs373326379
NM_001040716.2(PC):c.1513+9C>A rs45580638
NM_001040716.2(PC):c.1582G>A (p.Val528Ile)
NM_001040716.2(PC):c.1603+4G>T rs923731755
NM_001040716.2(PC):c.1717G>A (p.Ala573Thr) rs796052029
NM_001040716.2(PC):c.1843G>T (p.Ala615Ser)
NM_001040716.2(PC):c.2118C>T (p.Tyr706=) rs771659705
NM_001040716.2(PC):c.2134G>A (p.Asp712Asn)
NM_001040716.2(PC):c.2224-31TC[8] rs139065746
NM_001040716.2(PC):c.2549G>A (p.Cys850Tyr)
NM_001040716.2(PC):c.2592T>C (p.Asn864=) rs375784582
NM_001040716.2(PC):c.2723C>T (p.Thr908Met) rs796052032
NM_001040716.2(PC):c.3061A>G (p.Lys1021Glu)
NM_001040716.2(PC):c.3067T>C (p.Phe1023Leu)
NM_001040716.2(PC):c.3147+45dup rs368127649
NM_001040716.2(PC):c.3283A>G (p.Met1095Val)
NM_001040716.2(PC):c.3288+16G>C rs1591110269
NM_001040716.2(PC):c.3289-10G>C rs529411023
NM_001040716.2(PC):c.3328G>A (p.Gly1110Ser)
NM_001040716.2(PC):c.551C>G (p.Ser184Cys)
NM_001040716.2(PC):c.585G>T (p.Ala195=) rs375925670
NM_001040716.2(PC):c.634-4G>A rs368096991
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001040716.2(PC):c.796T>G (p.Ser266Ala) rs113994142
NM_001040716.2(PC):c.797C>A (p.Ser266Tyr) rs796052030
NM_001040716.2(PC):c.840C>T (p.Ala280=) rs376393322
NM_001040716.2(PC):c.913G>A (p.Glu305Lys)
NM_001040716.2(PC):c.96G>A (p.Leu32=) rs1057520946
NM_001040716.2(PC):c.98A>T (p.Glu33Val) rs1555027633

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.