ClinVar Miner

List of variants in gene PRKDC studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 250
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.400-267C>G rs1231204 0.96451
NM_006904.7(PRKDC):c.1623+6A>G rs1231202 0.96352
NM_006904.7(PRKDC):c.12182+39G>A rs8178258 0.23073
NM_006904.7(PRKDC):c.12042+181T>C rs8178255 0.23063
NM_006904.7(PRKDC):c.6059-94G>A rs7839407 0.23016
NM_006904.7(PRKDC):c.5572-51G>A rs6993483 0.22999
NM_006904.7(PRKDC):c.10297+89G>C rs7828380 0.14596
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13382
NM_006904.7(PRKDC):c.11108-228A>G rs141154042 0.13341
NM_006904.7(PRKDC):c.4072-263C>T rs8178095 0.13263
NM_006904.7(PRKDC):c.8578-18G>T rs4873728 0.12075
NM_006904.7(PRKDC):c.967-71G>A rs8178016 0.12068
NM_006904.7(PRKDC):c.2781+127del rs8178058 0.06887
NM_006904.7(PRKDC):c.1623+267G>A rs4873770 0.06322
NM_006904.7(PRKDC):c.2934+5G>C rs8178060 0.05686
NM_006904.7(PRKDC):c.9922+13C>T rs8178217 0.05523
NM_006904.7(PRKDC):c.7005+145A>G rs8178169 0.05303
NM_006904.7(PRKDC):c.2052+258G>A rs8178042 0.03956
NM_006904.7(PRKDC):c.10902+138C>T rs73571476 0.03724
NM_006904.7(PRKDC):c.4963-90A>G rs8178108 0.03585
NM_006904.7(PRKDC):c.11107+250G>C rs8178238 0.03412
NM_006904.7(PRKDC):c.4413+39T>C rs8178097 0.03399
NM_006904.7(PRKDC):c.1448-87A>C rs8178024 0.03196
NM_006904.7(PRKDC):c.9557+51G>A rs8178210 0.03195
NM_006904.7(PRKDC):c.12042+61T>C rs8178253 0.03120
NM_006904.7(PRKDC):c.11176-52A>C rs8178240 0.03116
NM_006904.7(PRKDC):c.11176-51G>A rs8178241 0.03112
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile) rs8178017 0.03099
NM_006904.7(PRKDC):c.7455-275C>T rs8178176 0.03098
NM_006904.7(PRKDC):c.1893-317C>T rs8178037 0.03084
NM_006904.7(PRKDC):c.5751-103G>A rs7819424 0.03080
NM_006904.7(PRKDC):c.6761+223C>T rs7839604 0.03080
NM_006904.7(PRKDC):c.6208-127C>T rs8178145 0.02772
NM_006904.7(PRKDC):c.2781+79T>C rs8178057 0.02744
NM_006904.7(PRKDC):c.9557+265C>T rs8178213 0.02547
NM_006904.7(PRKDC):c.10459-273A>C rs16930869 0.02519
NM_006904.7(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033 0.02513
NM_006904.7(PRKDC):c.8398-263T>C rs8178193 0.02504
NM_006904.7(PRKDC):c.9446-278G>T rs77359723 0.02500
NM_006904.7(PRKDC):c.3759G>A (p.Thr1253=) rs8178087 0.02475
NM_006904.7(PRKDC):c.5235+210A>G rs8178114 0.02390
NM_006904.7(PRKDC):c.4071+245C>T rs72647910 0.02330
NM_006904.7(PRKDC):c.4777-248G>A rs78188193 0.02310
NM_006904.7(PRKDC):c.2260-187G>A rs3829985 0.02231
NM_006904.7(PRKDC):c.6346-47A>G rs8178149 0.02098
NM_006904.7(PRKDC):c.11489+202T>G rs4873672 0.01828
NM_006904.7(PRKDC):c.6346-105A>G rs8178148 0.01827
NM_006904.7(PRKDC):c.4280+21C>T rs45625437 0.01642
NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser) rs8178070 0.01542
NM_006904.7(PRKDC):c.10297+304A>T rs180912464 0.01531
NM_006904.7(PRKDC):c.11176-288A>G rs144272057 0.01516
NM_006904.7(PRKDC):c.11176-22G>T rs8178242 0.01499
NM_006904.7(PRKDC):c.10458+114C>T rs45507799 0.01484
NM_006904.7(PRKDC):c.4776+144C>T rs8178105 0.01481
NM_006904.7(PRKDC):c.400-146C>T rs16932317 0.01436
NM_006904.7(PRKDC):c.3270-110A>G rs16931852 0.01408
NM_006904.7(PRKDC):c.6465+49G>T rs7463428 0.01405
NM_006904.7(PRKDC):c.6059-82T>C rs8178140 0.01392
NM_006904.7(PRKDC):c.4414-299G>A rs147304214 0.01335
NM_006904.7(PRKDC):c.5088T>G (p.Leu1696=) rs6992074 0.01219
NM_006904.7(PRKDC):c.2083C>T (p.Pro695Ser) rs8178046 0.01166
NM_006904.7(PRKDC):c.9112-68G>A rs146933089 0.01125
NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met) rs8178040 0.01119
NM_006904.7(PRKDC):c.11490-252G>A rs41390145 0.01093
NM_006904.7(PRKDC):c.778-31A>G rs45548835 0.01093
NM_006904.7(PRKDC):c.2935-54C>T rs56110471 0.01091
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228 0.01084
NM_006904.7(PRKDC):c.1777-579A>G rs140789033 0.01082
NM_006904.7(PRKDC):c.2618-303A>G rs149224447 0.00965
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
NM_006904.7(PRKDC):c.11854-123G>A rs8178252 0.00686
NM_006904.7(PRKDC):c.9145C>T (p.Leu3049=) rs56053523 0.00669
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=) rs8178249 0.00590
NM_006904.7(PRKDC):c.10626C>T (p.Phe3542=) rs8178231 0.00579
NM_006904.7(PRKDC):c.1892+42del rs8178035 0.00536
NM_006904.7(PRKDC):c.9557+200A>G rs8178212 0.00529
NM_006904.7(PRKDC):c.4413+98C>T rs144908648 0.00527
NM_006904.7(PRKDC):c.6465+102A>G rs8178151 0.00523
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232 0.00453
NM_006904.7(PRKDC):c.6058+28G>A rs8178131 0.00417
NM_006904.7(PRKDC):c.1911A>G (p.Lys637=) rs45438803 0.00412
NM_006904.7(PRKDC):c.6480C>T (p.Tyr2160=) rs55991828 0.00408
NM_006904.7(PRKDC):c.1893-12T>G rs56188476 0.00386
NM_006904.7(PRKDC):c.4321G>A (p.Ala1441Thr) rs111724137 0.00372
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp) rs8178208 0.00320
NM_006904.7(PRKDC):c.3941G>T (p.Gly1314Val) rs8178090 0.00313
NM_006904.7(PRKDC):c.9217C>T (p.Leu3073Phe) rs55644332 0.00292
NM_006904.7(PRKDC):c.10759-11T>C rs373043773 0.00266
NM_006904.7(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076 0.00235
NM_006904.7(PRKDC):c.4594C>T (p.Leu1532Phe) rs56387546 0.00230
NM_006904.7(PRKDC):c.12138C>T (p.Tyr4046=) rs56123237 0.00196
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=) rs56047668 0.00160
NM_006904.7(PRKDC):c.4809G>T (p.Gln1603His) rs8178106 0.00109
NM_006904.7(PRKDC):c.6951C>T (p.Ala2317=) rs114463099 0.00106
NM_006904.7(PRKDC):c.3222G>A (p.Lys1074=) rs183986754 0.00105
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_006904.7(PRKDC):c.1539A>G (p.Glu513=) rs182436738 0.00081
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=) rs201592874 0.00080
NM_006904.7(PRKDC):c.6342A>G (p.Glu2114=) rs201300612 0.00071
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897 0.00070
NM_006904.7(PRKDC):c.6348T>C (p.Asp2116=) rs200510022 0.00070
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_006904.7(PRKDC):c.11698C>G (p.Leu3900Val) rs201214138 0.00057
NM_006904.7(PRKDC):c.2667G>C (p.Glu889Asp) rs200126714 0.00056
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) rs55789637 0.00053
NM_006904.7(PRKDC):c.5709G>A (p.Ser1903=) rs200137917 0.00052
NM_006904.7(PRKDC):c.11029C>T (p.Pro3677Ser) rs55924155 0.00051
NM_006904.7(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400 0.00051
NM_006904.7(PRKDC):c.399+15A>G rs370171329 0.00045
NM_006904.7(PRKDC):c.4375C>T (p.His1459Tyr) rs199524714 0.00045
NM_006904.7(PRKDC):c.5957G>A (p.Arg1986His) rs199898990 0.00034
NM_006904.7(PRKDC):c.11118C>T (p.Asp3706=) rs55660253 0.00032
NM_006904.7(PRKDC):c.8784G>A (p.Lys2928=) rs202100944 0.00029
NM_006904.7(PRKDC):c.6329C>T (p.Pro2110Leu) rs191514502 0.00026
NM_006904.7(PRKDC):c.1743T>C (p.Leu581=) rs55842323 0.00024
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) rs368949953 0.00016
NM_006904.7(PRKDC):c.10244C>T (p.Thr3415Met) rs370050708 0.00015
NM_006904.7(PRKDC):c.10014G>A (p.Ala3338=) rs56013236 0.00014
NM_006904.7(PRKDC):c.129C>T (p.Val43=) rs373856605 0.00014
NM_006904.7(PRKDC):c.2955G>C (p.Glu985Asp) rs202016860 0.00013
NM_006904.7(PRKDC):c.4963-9T>A rs575172711 0.00013
NM_006904.7(PRKDC):c.871G>A (p.Val291Met) rs372117480 0.00013
NM_006904.7(PRKDC):c.11944A>G (p.Ser3982Gly) rs374625875 0.00012
NM_006904.7(PRKDC):c.6325G>A (p.Gly2109Ser) rs199908344 0.00012
NM_006904.7(PRKDC):c.6936T>C (p.Tyr2312=) rs55726602 0.00009
NM_006904.7(PRKDC):c.7010T>C (p.Leu2337Pro) rs375706148 0.00009
NM_006904.7(PRKDC):c.7787G>A (p.Arg2596His) rs201726098 0.00009
NM_006904.7(PRKDC):c.9112-19A>T rs371303455 0.00009
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=) rs576550975 0.00008
NM_006904.7(PRKDC):c.2840A>T (p.Gln947Leu) rs762709857 0.00007
NM_006904.7(PRKDC):c.593G>A (p.Arg198His) rs368974848 0.00007
NM_006904.7(PRKDC):c.7833C>T (p.Ala2611=) rs375277772 0.00007
NM_006904.7(PRKDC):c.8857A>T (p.Thr2953Ser) rs369402631 0.00007
NM_006904.7(PRKDC):c.3698C>T (p.Ser1233Leu) rs575674401 0.00006
NM_006904.7(PRKDC):c.5571+5C>T rs780022870 0.00006
NM_006904.7(PRKDC):c.7954G>A (p.Gly2652Arg) rs746861565 0.00006
NM_006904.7(PRKDC):c.1054G>A (p.Val352Met) rs772734060 0.00005
NM_006904.7(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511 0.00004
NM_006904.7(PRKDC):c.3744C>T (p.Phe1248=) rs200729621 0.00004
NM_006904.7(PRKDC):c.5464C>T (p.Arg1822Cys) rs377127342 0.00004
NM_006904.7(PRKDC):c.9845G>A (p.Arg3282His) rs758666662 0.00004
NM_006904.7(PRKDC):c.1971T>C (p.Ser657=) rs766026632 0.00003
NM_006904.7(PRKDC):c.5559C>T (p.Ser1853=) rs777811841 0.00003
NM_006904.7(PRKDC):c.7131-5G>A rs759566902 0.00003
NM_006904.7(PRKDC):c.7935A>G (p.Thr2645=) rs767431572 0.00003
NM_006904.7(PRKDC):c.8031C>T (p.Ser2677=) rs1221629267 0.00003
NM_006904.7(PRKDC):c.4630G>A (p.Gly1544Ser) rs746489977 0.00002
NM_006904.7(PRKDC):c.5269A>G (p.Met1757Val) rs376292677 0.00002
NM_006904.7(PRKDC):c.6199C>T (p.Arg2067Trp) rs370153408 0.00002
NM_006904.7(PRKDC):c.11930C>T (p.Thr3977Met) rs200248112 0.00001
NM_006904.7(PRKDC):c.1447+12A>G rs752784913 0.00001
NM_006904.7(PRKDC):c.2291C>T (p.Pro764Leu) rs374576070 0.00001
NM_006904.7(PRKDC):c.3157C>T (p.Pro1053Ser) rs771002751 0.00001
NM_006904.7(PRKDC):c.3803A>G (p.Asn1268Ser) rs373092389 0.00001
NM_006904.7(PRKDC):c.3911A>G (p.His1304Arg) rs1315944028 0.00001
NM_006904.7(PRKDC):c.4014G>A (p.Val1338=) rs976690996 0.00001
NM_006904.7(PRKDC):c.4052C>T (p.Thr1351Ile) rs1487381864 0.00001
NM_006904.7(PRKDC):c.5026A>G (p.Ile1676Val) rs751280765 0.00001
NM_006904.7(PRKDC):c.6577A>G (p.Ile2193Val) rs759652590 0.00001
NM_006904.7(PRKDC):c.7083T>C (p.Ile2361=) rs1241908273 0.00001
NM_006904.7(PRKDC):c.7786C>T (p.Arg2596Cys) rs756717665 0.00001
NM_006904.7(PRKDC):c.9982A>G (p.Ile3328Val) rs752730508 0.00001
GRCh37/hg19 8q11.21(chr8:48730498-48829786)x1
NM_006904.7(PRKDC):c.10298-118_10298-116del
NM_006904.7(PRKDC):c.10298-131G>C
NM_006904.7(PRKDC):c.10298-215_10298-214del
NM_006904.7(PRKDC):c.10322C>T (p.Ala3441Val) rs757868901
NM_006904.7(PRKDC):c.10458+2T>C
NM_006904.7(PRKDC):c.10715T>C (p.Ile3572Thr)
NM_006904.7(PRKDC):c.11089A>G (p.Asn3697Asp)
NM_006904.7(PRKDC):c.1114-1G>A rs1554645438
NM_006904.7(PRKDC):c.1114-266del rs869164665
NM_006904.7(PRKDC):c.1114-281dup rs869164665
NM_006904.7(PRKDC):c.11212A>G (p.Ile3738Val)
NM_006904.7(PRKDC):c.11313G>T (p.Met3771Ile)
NM_006904.7(PRKDC):c.11514A>G (p.Glu3838=)
NM_006904.7(PRKDC):c.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.7(PRKDC):c.11853G>A (p.Gln3951=)
NM_006904.7(PRKDC):c.11978C>T (p.Ser3993Leu) rs1554623574
NM_006904.7(PRKDC):c.11997C>A (p.Thr3999=)
NM_006904.7(PRKDC):c.12043-230del rs536284158
NM_006904.7(PRKDC):c.12043-242dup rs536284158
NM_006904.7(PRKDC):c.12175A>G (p.Ile4059Val) rs2086617397
NM_006904.7(PRKDC):c.12183-5del rs545199062
NM_006904.7(PRKDC):c.12183-93G>C rs72646391
NM_006904.7(PRKDC):c.12321G>A (p.Leu4107=)
NM_006904.7(PRKDC):c.1279-180GT[3] rs59080558
NM_006904.7(PRKDC):c.155-192_155-191del rs8178001
NM_006904.7(PRKDC):c.1777-29A>G
NM_006904.7(PRKDC):c.1777-647G>A
NM_006904.7(PRKDC):c.2139+32_2139+34del rs371404425
NM_006904.7(PRKDC):c.2140-283dup rs375267637
NM_006904.7(PRKDC):c.2229C>A (p.Leu743=) rs750314401
NM_006904.7(PRKDC):c.2259+187_2259+188dup
NM_006904.7(PRKDC):c.2414T>C (p.Leu805Ser)
NM_006904.7(PRKDC):c.243T>C (p.Cys81=)
NM_006904.7(PRKDC):c.2755C>T (p.Leu919Phe) rs1431074490
NM_006904.7(PRKDC):c.2899C>T (p.Pro967Ser)
NM_006904.7(PRKDC):c.3042+336C>G rs2382636
NM_006904.7(PRKDC):c.3045T>A (p.Asp1015Glu)
NM_006904.7(PRKDC):c.304C>T (p.Pro102Ser)
NM_006904.7(PRKDC):c.3148_3150del (p.Glu1050del) rs778725742
NM_006904.7(PRKDC):c.324+193G>T rs13277684
NM_006904.7(PRKDC):c.324+198A>T rs13265129
NM_006904.7(PRKDC):c.3256T>C (p.Tyr1086His) rs1030128713
NM_006904.7(PRKDC):c.3270-120A>G rs145553159
NM_006904.7(PRKDC):c.3270-12dup rs772109927
NM_006904.7(PRKDC):c.3308C>T (p.Ala1103Val)
NM_006904.7(PRKDC):c.3464+12T>C
NM_006904.7(PRKDC):c.3464+131C>A
NM_006904.7(PRKDC):c.3885T>G (p.Ala1295=) rs968035693
NM_006904.7(PRKDC):c.4062A>C (p.Glu1354Asp)
NM_006904.7(PRKDC):c.4071+101TAT[10] rs36103307
NM_006904.7(PRKDC):c.4071+101TAT[8] rs36103307
NM_006904.7(PRKDC):c.4455C>T (p.Ser1485=)
NM_006904.7(PRKDC):c.4566A>G (p.Gly1522=) rs1589767137
NM_006904.7(PRKDC):c.4785C>A (p.Ala1595=) rs769950590
NM_006904.7(PRKDC):c.5067+329_5067+332del rs542947867
NM_006904.7(PRKDC):c.508+110A>C rs1231203
NM_006904.7(PRKDC):c.509-4T>G rs200774352
NM_006904.7(PRKDC):c.5236-270dup rs1279419423
NM_006904.7(PRKDC):c.5316T>C (p.His1772=) rs1589759765
NM_006904.7(PRKDC):c.5960G>A (p.Arg1987His) rs551812114
NM_006904.7(PRKDC):c.5979A>G (p.Glu1993=) rs1589750121
NM_006904.7(PRKDC):c.6338_6340del (p.Gly2113del) rs79703138
NM_006904.7(PRKDC):c.6346-104dup rs201478998
NM_006904.7(PRKDC):c.6441C>G (p.Ala2147=) rs376156239
NM_006904.7(PRKDC):c.6527A>G (p.Asn2176Ser)
NM_006904.7(PRKDC):c.655G>C (p.Val219Leu) rs1247432451
NM_006904.7(PRKDC):c.6607A>G (p.Thr2203Ala) rs2088560741
NM_006904.7(PRKDC):c.6761+265G>C rs8178158
NM_006904.7(PRKDC):c.7114C>T (p.Pro2372Ser) rs748925420
NM_006904.7(PRKDC):c.7605C>T (p.Thr2535=)
NM_006904.7(PRKDC):c.7657C>T (p.His2553Tyr)
NM_006904.7(PRKDC):c.7952-292_7952-290dup rs200754946
NM_006904.7(PRKDC):c.7962C>T (p.Ser2654=) rs1563758541
NM_006904.7(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.7(PRKDC):c.8274G>A (p.Lys2758=) rs148855050
NM_006904.7(PRKDC):c.8577+178del rs8178197
NM_006904.7(PRKDC):c.8577G>A (p.Gln2859=)
NM_006904.7(PRKDC):c.8819G>A (p.Arg2940His) rs372587440
NM_006904.7(PRKDC):c.900G>C (p.Trp300Cys) rs2154504133
NM_006904.7(PRKDC):c.9337-24dup rs11311765
NM_006904.7(PRKDC):c.9337-4_9337-3insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT rs11311765
NM_006904.7(PRKDC):c.9337-4del rs11311765
NM_006904.7(PRKDC):c.9337-5_9337-4del rs11311765
NM_006904.7(PRKDC):c.9337-6_9337-4del rs11311765
NM_006904.7(PRKDC):c.9510T>C (p.Asp3170=) rs757958003
NM_006904.7(PRKDC):c.9804C>G (p.Thr3268=) rs1589707360
NM_006904.7(PRKDC):c.9936_9937del (p.Ser3313fs) rs1589705455

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