ClinVar Miner

List of variants in gene PRKDC studied for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 161
Download table as spreadsheet
HGVS dbSNP
NM_001081640.1(PRKDC):c.6952G>A (p.Ala2318Thr) rs779732085
NM_006904.6(PRKDC):c.1003A>C (p.Lys335Gln)
NM_006904.6(PRKDC):c.10042C>T (p.Leu3348Phe)
NM_006904.6(PRKDC):c.1017G>T (p.Gln339His)
NM_006904.6(PRKDC):c.10184_10186delAGG (p.Glu3395del)
NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225
NM_006904.6(PRKDC):c.10322C>T (p.Ala3441Val) rs757868901
NM_006904.6(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228
NM_006904.6(PRKDC):c.10626C>T (p.Phe3542=) rs8178231
NM_006904.6(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232
NM_006904.6(PRKDC):c.10700T>A (p.Val3567Glu)
NM_006904.6(PRKDC):c.10721C>T (p.Ala3574Val) rs587777686
NM_006904.6(PRKDC):c.10750C>T (p.Leu3584Phe) rs55866966
NM_006904.6(PRKDC):c.10979A>G (p.Asn3660Ser)
NM_006904.6(PRKDC):c.11029C>T (p.Pro3677Ser) rs55924155
NM_006904.6(PRKDC):c.11048G>A (p.Cys3683Tyr) rs148018130
NM_006904.6(PRKDC):c.11222G>T (p.Arg3741Leu) rs759518580
NM_006904.6(PRKDC):c.11288G>A (p.Arg3763His)
NM_006904.6(PRKDC):c.11379T>C (p.Val3793=) rs55769154
NM_006904.6(PRKDC):c.11490-1G>A rs1554623754
NM_006904.6(PRKDC):c.11561C>T (p.Ala3854Val)
NM_006904.6(PRKDC):c.11606C>T (p.Thr3869Met)
NM_006904.6(PRKDC):c.11698C>G (p.Leu3900Val)
NM_006904.6(PRKDC):c.11713G>T (p.Ala3905Ser) rs762000221
NM_006904.6(PRKDC):c.11754C>T (p.Leu3918=) rs774251901
NM_006904.6(PRKDC):c.11805C>T (p.Gly3935=) rs8178249
NM_006904.6(PRKDC):c.11806G>A (p.Gly3936Ser)
NM_006904.6(PRKDC):c.11814C>T (p.Ile3938=) rs750761283
NM_006904.6(PRKDC):c.11920A>G (p.Met3974Val)
NM_006904.6(PRKDC):c.12049G>C (p.Glu4017Gln)
NM_006904.6(PRKDC):c.12138C>T (p.Tyr4046=) rs56123237
NM_006904.6(PRKDC):c.12216T>A (p.Pro4072=) rs570143368
NM_006904.6(PRKDC):c.12292C>A (p.Leu4098Ile) rs1323956173
NM_006904.6(PRKDC):c.129C>T (p.Val43=) rs373856605
NM_006904.6(PRKDC):c.1337T>A (p.Phe446Tyr) rs534735519
NM_006904.6(PRKDC):c.1338C>A (p.Phe446Leu) rs61729514
NM_006904.6(PRKDC):c.1389G>A (p.Lys463=) rs772883495
NM_006904.6(PRKDC):c.1525C>T (p.Arg509Cys)
NM_006904.6(PRKDC):c.1526G>A (p.Arg509His)
NM_006904.6(PRKDC):c.1535G>T (p.Gly512Val) rs549230210
NM_006904.6(PRKDC):c.1640A>G (p.Asp547Gly) rs1455158671
NM_006904.6(PRKDC):c.1676G>C (p.Ser559Thr) rs1038089558
NM_006904.6(PRKDC):c.16G>T (p.Ala6Ser) rs8177999
NM_006904.6(PRKDC):c.1776+1523dup rs546905091
NM_006904.6(PRKDC):c.17C>T (p.Ala6Val)
NM_006904.6(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033
NM_006904.6(PRKDC):c.1818A>G (p.Ser606=) rs368804788
NM_006904.6(PRKDC):c.1862C>T (p.Ser621Leu) rs759890511
NM_006904.6(PRKDC):c.1896G>A (p.Glu632=) rs774814292
NM_006904.6(PRKDC):c.1911A>G (p.Lys637=) rs45438803
NM_006904.6(PRKDC):c.2040A>G (p.Ile680Met) rs8178040
NM_006904.6(PRKDC):c.2083C>T (p.Pro695Ser) rs8178046
NM_006904.6(PRKDC):c.2112T>A (p.Phe704Leu) rs1000728174
NM_006904.6(PRKDC):c.2143G>A (p.Ala715Thr)
NM_006904.6(PRKDC):c.2220C>T (p.Ile740=) rs191477681
NM_006904.6(PRKDC):c.2245G>A (p.Val749Ile)
NM_006904.6(PRKDC):c.2249C>T (p.Pro750Leu)
NM_006904.6(PRKDC):c.234T>C (p.Phe78=)
NM_006904.6(PRKDC):c.2551A>C (p.Ile851Leu)
NM_006904.6(PRKDC):c.2599A>C (p.Asn867His)
NM_006904.6(PRKDC):c.2629G>C (p.Asp877His) rs200560953
NM_006904.6(PRKDC):c.2667G>C (p.Glu889Asp)
NM_006904.6(PRKDC):c.2717T>C (p.Phe906Ser)
NM_006904.6(PRKDC):c.2801T>C (p.Leu934Ser)
NM_006904.6(PRKDC):c.2934+5G>C rs8178060
NM_006904.6(PRKDC):c.3101G>A (p.Arg1034Gln) rs200669578
NM_006904.6(PRKDC):c.3148_3150delGAG (p.Glu1050del)
NM_006904.6(PRKDC):c.3212A>G (p.Asn1071Ser) rs8178070
NM_006904.6(PRKDC):c.3222G>A (p.Lys1074=) rs183986754
NM_006904.6(PRKDC):c.3315G>T (p.Val1105=) rs56047668
NM_006904.6(PRKDC):c.3368C>T (p.Thr1123Ile)
NM_006904.6(PRKDC):c.3574T>C (p.Tyr1192His)
NM_006904.6(PRKDC):c.3698C>T (p.Ser1233Leu)
NM_006904.6(PRKDC):c.3709G>A (p.Ala1237Thr) rs191531119
NM_006904.6(PRKDC):c.3759G>A (p.Thr1253=) rs8178087
NM_006904.6(PRKDC):c.37C>G (p.Leu13Val) rs761140462
NM_006904.6(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897
NM_006904.6(PRKDC):c.4059G>A (p.Pro1353=) rs762998738
NM_006904.6(PRKDC):c.4072-12_4072-9delAATC rs575629886
NM_006904.6(PRKDC):c.4124C>T (p.Thr1375Met)
NM_006904.6(PRKDC):c.4138G>A (p.Ala1380Thr)
NM_006904.6(PRKDC):c.4159G>A (p.Gly1387Arg) rs562542456
NM_006904.6(PRKDC):c.4178C>A (p.Ala1393Asp) rs544730211
NM_006904.6(PRKDC):c.4226C>T (p.Ser1409Phe)
NM_006904.6(PRKDC):c.422C>G (p.Ser141Cys) rs201231274
NM_006904.6(PRKDC):c.4271C>T (p.Thr1424Ile) rs1482599945
NM_006904.6(PRKDC):c.4375C>T (p.His1459Tyr) rs199524714
NM_006904.6(PRKDC):c.4413+7A>G rs773414458
NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143
NM_006904.6(PRKDC):c.4594C>T (p.Leu1532Phe) rs56387546
NM_006904.6(PRKDC):c.4630G>A (p.Gly1544Ser) rs746489977
NM_006904.6(PRKDC):c.4651A>G (p.Ile1551Val)
NM_006904.6(PRKDC):c.4774A>G (p.Met1592Val) rs368553930
NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His) rs8178106
NM_006904.6(PRKDC):c.4867C>A (p.Leu1623Met) rs1554638445
NM_006904.6(PRKDC):c.4883A>T (p.Lys1628Met)
NM_006904.6(PRKDC):c.4907A>G (p.Asp1636Gly) rs768811819
NM_006904.6(PRKDC):c.4936C>T (p.Leu1646=) rs1554638426
NM_006904.6(PRKDC):c.4962+8A>G rs767290425
NM_006904.6(PRKDC):c.5088T>G (p.Leu1696=) rs6992074
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006904.6(PRKDC):c.5235+10T>A rs8178111
NM_006904.6(PRKDC):c.5253A>G (p.Glu1751=) rs8178120
NM_006904.6(PRKDC):c.5363+2T>C
NM_006904.6(PRKDC):c.5466C>T (p.Arg1822=) rs1418857770
NM_006904.6(PRKDC):c.5571+5C>T rs780022870
NM_006904.6(PRKDC):c.5572-4G>A
NM_006904.6(PRKDC):c.5703T>A (p.His1901Gln)
NM_006904.6(PRKDC):c.5750+7T>C rs1231868709
NM_006904.6(PRKDC):c.5760C>T (p.Tyr1920=) rs188014107
NM_006904.6(PRKDC):c.5818T>C (p.Tyr1940His)
NM_006904.6(PRKDC):c.5845A>G (p.Ile1949Val) rs56083215
NM_006904.6(PRKDC):c.6067T>C (p.Ser2023Pro) rs56042895
NM_006904.6(PRKDC):c.6215G>A (p.Arg2072Gln)
NM_006904.6(PRKDC):c.6268C>T (p.Arg2090Trp) rs375294044
NM_006904.6(PRKDC):c.6325G>A (p.Gly2109Ser)
NM_006904.6(PRKDC):c.6338_6340delGAG (p.Gly2113del) rs79703138
NM_006904.6(PRKDC):c.6342A>G (p.Glu2114=) rs201300612
NM_006904.6(PRKDC):c.6348T>C (p.Asp2116=) rs200510022
NM_006904.6(PRKDC):c.6397C>G (p.Leu2133Val)
NM_006904.6(PRKDC):c.6441C>G (p.Ala2147=) rs376156239
NM_006904.6(PRKDC):c.6466-9C>T rs752823972
NM_006904.6(PRKDC):c.6480C>T (p.Tyr2160=) rs55991828
NM_006904.6(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703
NM_006904.6(PRKDC):c.6936T>C (p.Tyr2312=) rs55726602
NM_006904.6(PRKDC):c.7010T>C (p.Leu2337Pro) rs375706148
NM_006904.6(PRKDC):c.7204C>T (p.Leu2402Phe) rs374403400
NM_006904.6(PRKDC):c.7331C>T (p.Pro2444Leu) rs749527505
NM_006904.6(PRKDC):c.7405T>C (p.Cys2469Arg) rs147514951
NM_006904.6(PRKDC):c.7647G>A (p.Lys2549=) rs4425755
NM_006904.6(PRKDC):c.7750T>C (p.Cys2584Arg) rs746648336
NM_006904.6(PRKDC):c.7761+10T>C rs1481895843
NM_006904.6(PRKDC):c.7856G>A (p.Arg2619His)
NM_006904.6(PRKDC):c.7997C>T (p.Pro2666Leu)
NM_006904.6(PRKDC):c.8004C>T (p.Val2668=) rs140123272
NM_006904.6(PRKDC):c.8061G>T (p.Arg2687Ser)
NM_006904.6(PRKDC):c.8229T>C (p.Tyr2743=) rs562024708
NM_006904.6(PRKDC):c.8326C>T (p.Arg2776Trp)
NM_006904.6(PRKDC):c.8661C>T (p.Pro2887=) rs78163867
NM_006904.6(PRKDC):c.8685G>A (p.Glu2895=) rs547408689
NM_006904.6(PRKDC):c.8692C>T (p.Leu2898Phe)
NM_006904.6(PRKDC):c.8695C>T (p.Arg2899Cys) rs4278157
NM_006904.6(PRKDC):c.871G>A (p.Val291Met) rs372117480
NM_006904.6(PRKDC):c.8857A>T (p.Thr2953Ser) rs369402631
NM_006904.6(PRKDC):c.9030A>T (p.Ser3010=) rs759496711
NM_006904.6(PRKDC):c.9071C>T (p.Pro3024Leu)
NM_006904.6(PRKDC):c.9145C>T (p.Leu3049=) rs56053523
NM_006904.6(PRKDC):c.9217C>T (p.Leu3073Phe) rs55644332
NM_006904.6(PRKDC):c.9292A>G (p.Arg3098Gly)
NM_006904.6(PRKDC):c.9446G>A (p.Gly3149Asp) rs8178208
NM_006904.6(PRKDC):c.9557+4A>C rs140578467
NM_006904.6(PRKDC):c.9558-8T>C rs138258308
NM_006904.6(PRKDC):c.9558A>T (p.Arg3186=)
NM_006904.6(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216
NM_006904.6(PRKDC):c.967-10G>T rs186115112
NM_006904.6(PRKDC):c.9693C>A (p.Ile3231=) rs759916434
NM_006904.6(PRKDC):c.9783G>T (p.Glu3261Asp) rs772972161
NM_006904.6(PRKDC):c.9810C>T (p.Asp3270=) rs1361121924
NM_006904.6(PRKDC):c.9845G>A (p.Arg3282His)
NM_006904.6(PRKDC):c.9933C>T (p.Asn3311=) rs201592874
NM_006904.6(PRKDC):c.999G>A (p.Met333Ile) rs8178017

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.