ClinVar Miner

List of variants in gene PRKDC reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 154
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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.10211G>A (p.Gly3404Glu) rs8178225 0.01254
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.3042+18C>A rs56169650 0.00521
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.9446G>A (p.Gly3149Asp) rs8178208 0.00320
NM_006904.7(PRKDC):c.9557+8G>A rs8178209 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.4809G>T (p.Gln1603His) rs8178106 0.00109
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=) rs201592874 0.00080
NM_006904.7(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119 0.00059
NM_006904.7(PRKDC):c.3462G>A (p.Pro1154=) rs368215109 0.00020
NM_006904.7(PRKDC):c.5957G>A (p.Arg1986His) rs199898990 0.00016
NM_006904.7(PRKDC):c.4963-9T>A rs575172711 0.00013
NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=) rs189680139 0.00011
NM_006904.7(PRKDC):c.10774G>T (p.Val3592Leu) rs1490966994 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.8857A>T (p.Thr2953Ser) rs369402631 0.00006
NM_006904.7(PRKDC):c.594C>T (p.Arg198=) rs550250358 0.00005
NM_006904.7(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511 0.00004
NM_006904.7(PRKDC):c.5464C>T (p.Arg1822Cys) rs377127342 0.00004
NM_006904.7(PRKDC):c.11930C>T (p.Thr3977Met) rs200248112 0.00001
NM_006904.7(PRKDC):c.11967G>A (p.Arg3989=) rs953043854 0.00001
NM_006904.7(PRKDC):c.3157C>T (p.Pro1053Ser) rs771002751 0.00001
NM_006904.7(PRKDC):c.4014G>A (p.Val1338=) rs976690996 0.00001
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.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.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.7(PRKDC):c.12043-230del rs536284158
NM_006904.7(PRKDC):c.12043-242dup rs536284158
NM_006904.7(PRKDC):c.12183-93G>C rs72646391
NM_006904.7(PRKDC):c.1279-180GT[3] rs59080558
NM_006904.7(PRKDC):c.155-192_155-191del rs8178001
NM_006904.7(PRKDC):c.1777-647G>A
NM_006904.7(PRKDC):c.2139+32_2139+34del rs371404425
NM_006904.7(PRKDC):c.2140-13_2140-11del rs370706897
NM_006904.7(PRKDC):c.2140-283dup rs375267637
NM_006904.7(PRKDC):c.2259+187_2259+188dup
NM_006904.7(PRKDC):c.3042+336C>G rs2382636
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.3464+131C>A
NM_006904.7(PRKDC):c.3848-14A>T rs749113047
NM_006904.7(PRKDC):c.3885T>G (p.Ala1295=) rs968035693
NM_006904.7(PRKDC):c.4071+101TAT[10] rs36103307
NM_006904.7(PRKDC):c.4071+101TAT[8] rs36103307
NM_006904.7(PRKDC):c.5067+329_5067+332del rs542947867
NM_006904.7(PRKDC):c.508+110A>C rs1231203
NM_006904.7(PRKDC):c.5236-270dup rs1279419423
NM_006904.7(PRKDC):c.5960G>A (p.Arg1987His) rs551812114
NM_006904.7(PRKDC):c.6346-104dup rs201478998
NM_006904.7(PRKDC):c.6761+265G>C rs8178158
NM_006904.7(PRKDC):c.7114C>T (p.Pro2372Ser) rs748925420
NM_006904.7(PRKDC):c.7952-292_7952-290dup rs200754946
NM_006904.7(PRKDC):c.8577+178del rs8178197
NM_006904.7(PRKDC):c.8819G>A (p.Arg2940His) rs372587440
NM_006904.7(PRKDC):c.9337-24dup 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.9923-17dup rs573568510

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