ClinVar Miner

List of variants in gene PRKDC reported as benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_006904.7(PRKDC):c.1623+6A>G rs1231202 0.96352
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr) rs7830743 0.13382
NM_006904.7(PRKDC):c.8578-18G>T rs4873728 0.12075
NM_006904.7(PRKDC):c.3731_3732insG (p.Arg1245fs) rs757063670 0.05932
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.999G>A (p.Met333Ile) rs8178017 0.03099
NM_006904.7(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033 0.02513
NM_006904.7(PRKDC):c.3759G>A (p.Thr1253=) rs8178087 0.02475
NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser) rs8178070 0.01542
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.2040A>G (p.Ile680Met) rs8178040 0.01119
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser) rs8178228 0.01084
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
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.3042+18C>A rs56169650 0.00521
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met) rs8178232 0.00453
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.6067T>C (p.Ser2023Pro) rs56042895 0.00371
NM_006904.7(PRKDC):c.967-10G>T rs186115112 0.00359
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.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.1338C>A (p.Phe446Leu) rs61729514 0.00198
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.9558-8T>C rs138258308 0.00120
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.8577+17C>T rs184210808 0.00084
NM_006904.7(PRKDC):c.10297+13T>A rs370676239 0.00082
NM_006904.7(PRKDC):c.1539A>G (p.Glu513=) rs182436738 0.00081
NM_006904.7(PRKDC):c.1728T>G (p.Val576=) rs369983299 0.00081
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=) rs201592874 0.00080
NM_006904.7(PRKDC):c.11076G>A (p.Val3692=) rs8178235 0.00078
NM_006904.7(PRKDC):c.11507C>T (p.Pro3836Leu) rs8178245 0.00073
NM_006904.7(PRKDC):c.6762-19C>G rs144502071 0.00062
NM_006904.7(PRKDC):c.11379T>C (p.Val3793=) rs55769154 0.00061
NM_006904.7(PRKDC):c.9593C>G (p.Thr3198Ser) rs55793951 0.00061
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) rs55789637 0.00053
NM_006904.7(PRKDC):c.5919+16G>A rs200385490 0.00046
NM_006904.7(PRKDC):c.5235+10T>A rs8178111 0.00043
NM_006904.7(PRKDC):c.3734G>A (p.Arg1245Gln) rs545202367 0.00039
NM_006904.7(PRKDC):c.6291G>A (p.Leu2097=) rs562591745 0.00037
NM_006904.7(PRKDC):c.10750C>T (p.Leu3584Phe) rs55866966 0.00030
NM_006904.7(PRKDC):c.509-4T>A rs200774352 0.00029
NM_006904.7(PRKDC):c.1212C>T (p.Asp404=) rs376199818 0.00021
NM_006904.7(PRKDC):c.11583C>T (p.Gly3861=) rs202104334 0.00015
NM_006904.7(PRKDC):c.11766C>T (p.Asp3922=) rs8178247 0.00013
NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=) rs189680139 0.00011
NM_006904.7(PRKDC):c.6936T>C (p.Tyr2312=) rs55726602 0.00009
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=) rs576550975 0.00008
NM_006904.7(PRKDC):c.4311T>C (p.Tyr1437=) rs181439210 0.00006
NM_006904.7(PRKDC):c.8043C>T (p.Ala2681=) rs200543348 0.00006
NM_006904.7(PRKDC):c.8415A>C (p.Ala2805=) rs77033659 0.00006
NM_006904.7(PRKDC):c.155-20T>C rs530661663 0.00004
NM_006904.7(PRKDC):c.9030A>T (p.Ser3010=) rs759496711 0.00004
NM_006904.7(PRKDC):c.3731T>C (p.Leu1244Pro) rs370106149 0.00003
NM_006904.7(PRKDC):c.4300G>A (p.Val1434Ile) rs538368415 0.00002
NM_006904.7(PRKDC):c.3733C>T (p.Arg1245Trp) rs200017529 0.00001
NM_006904.7(PRKDC):c.10759-11del
NM_006904.7(PRKDC):c.10759-11dup rs34211555
NM_006904.7(PRKDC):c.11176-16A>G
NM_006904.7(PRKDC):c.11490-13del
NM_006904.7(PRKDC):c.12156A>C (p.Ala4052=) rs56395046
NM_006904.7(PRKDC):c.12183-5dup
NM_006904.7(PRKDC):c.1448-15dup rs559118181
NM_006904.7(PRKDC):c.1448-4dup
NM_006904.7(PRKDC):c.155-13dup rs779456543
NM_006904.7(PRKDC):c.2140-13_2140-11del rs370706897
NM_006904.7(PRKDC):c.325-10del rs567466258
NM_006904.7(PRKDC):c.325-19dup rs567466258
NM_006904.7(PRKDC):c.3599-5dup
NM_006904.7(PRKDC):c.3730dup (p.Leu1244fs) rs11411516
NM_006904.7(PRKDC):c.3994T>A (p.Tyr1332Asn)
NM_006904.7(PRKDC):c.4072-12_4072-9del rs575629886
NM_006904.7(PRKDC):c.4072-8T>C
NM_006904.7(PRKDC):c.5236-5dup
NM_006904.7(PRKDC):c.622-19_622-17del rs147184259
NM_006904.7(PRKDC):c.6338_6340del (p.Gly2113del) rs79703138
NM_006904.7(PRKDC):c.6355C>G (p.Pro2119Ala)
NM_006904.7(PRKDC):c.6441C>G (p.Ala2147=) rs376156239
NM_006904.7(PRKDC):c.6894-16del rs2154500336
NM_006904.7(PRKDC):c.7454+19_7454+20del rs8178175
NM_006904.7(PRKDC):c.7554-16del
NM_006904.7(PRKDC):c.9923-17dup rs573568510
NM_006904.7(PRKDC):c.9923-28GTTTT[2] rs576649177

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