List of variants reported as benign for Severe combined immunodeficiency due to DNA-PKcs deficiency

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_006904.7(PRKDC):c.1623+6A>G	rs1231202	0.96455
NM_006904.7(PRKDC):c.10301T>C (p.Ile3434Thr)	rs7830743	0.13283
NM_006904.7(PRKDC):c.8578-18G>T	rs4873728	0.12047
NM_006904.7(PRKDC):c.3731_3732insG (p.Arg1245fs)	rs757063670	0.05932
NM_006904.7(PRKDC):c.9922+13C>T	rs8178217	0.05523
NM_006904.7(PRKDC):c.2934+5G>C	rs8178060	0.05288
NM_006904.7(PRKDC):c.8695C>T (p.Arg2899Cys)	rs4278157	0.03454
NM_006904.7(PRKDC):c.999G>A (p.Met333Ile)	rs8178017	0.03054
NM_006904.7(PRKDC):c.1814C>G (p.Thr605Ser)	rs8178033	0.02351
NM_006904.7(PRKDC):c.3759G>A (p.Thr1253=)	rs8178087	0.02297
NM_006904.7(PRKDC):c.3212A>G (p.Asn1071Ser)	rs8178070	0.01542
NM_006904.7(PRKDC):c.5088T>G (p.Leu1696=)	rs6992074	0.01219
NM_006904.7(PRKDC):c.10211G>A (p.Gly3404Glu)	rs8178225	0.01210
NM_006904.7(PRKDC):c.2083C>T (p.Pro695Ser)	rs8178046	0.01099
NM_006904.7(PRKDC):c.10376A>G (p.Asn3459Ser)	rs8178228	0.01084
NM_006904.7(PRKDC):c.2040A>G (p.Ile680Met)	rs8178040	0.01045
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.8661C>T (p.Pro2887=)	rs78163867	0.00528
NM_006904.7(PRKDC):c.10684T>A (p.Leu3562Met)	rs8178232	0.00482
NM_006904.7(PRKDC):c.3042+18C>A	rs56169650	0.00481
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.4321G>A (p.Ala1441Thr)	rs111724137	0.00360
NM_006904.7(PRKDC):c.6067T>C (p.Ser2023Pro)	rs56042895	0.00360
NM_006904.7(PRKDC):c.1893-12T>G	rs56188476	0.00354
NM_006904.7(PRKDC):c.967-10G>T	rs186115112	0.00343
NM_006904.7(PRKDC):c.9446G>A (p.Gly3149Asp)	rs8178208	0.00320
NM_006904.7(PRKDC):c.3941G>T (p.Gly1314Val)	rs8178090	0.00294
NM_006904.7(PRKDC):c.9557+8G>A	rs8178209	0.00294
NM_006904.7(PRKDC):c.9217C>T (p.Leu3073Phe)	rs55644332	0.00292
NM_006904.7(PRKDC):c.10759-11T>C	rs373043773	0.00250
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.11076G>A (p.Val3692=)	rs8178235	0.00117
NM_006904.7(PRKDC):c.9558-8T>C	rs138258308	0.00111
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.1728T>G (p.Val576=)	rs369983299	0.00081
NM_006904.7(PRKDC):c.9933C>T (p.Asn3311=)	rs201592874	0.00080
NM_006904.7(PRKDC):c.9593C>G (p.Thr3198Ser)	rs55793951	0.00078
NM_006904.7(PRKDC):c.3994T>A (p.Tyr1332Asn)	rs370559742	0.00077
NM_006904.7(PRKDC):c.1539A>G (p.Glu513=)	rs182436738	0.00076
NM_006904.7(PRKDC):c.11507C>T (p.Pro3836Leu)	rs8178245	0.00073
NM_006904.7(PRKDC):c.6355C>G (p.Pro2119Ala)	rs199864974	0.00070
NM_006904.7(PRKDC):c.11379T>C (p.Val3793=)	rs55769154	0.00061
NM_006904.7(PRKDC):c.6762-19C>G	rs144502071	0.00056
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.11583C>T (p.Gly3861=)	rs202104334	0.00040
NM_006904.7(PRKDC):c.3734G>A (p.Arg1245Gln)	rs545202367	0.00038
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=)	rs576550975	0.00032
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.11766C>T (p.Asp3922=)	rs8178247	0.00015
NM_006904.7(PRKDC):c.6291G>A (p.Leu2097=)	rs562591745	0.00013
NM_006904.7(PRKDC):c.4137C>T (p.Pro1379=)	rs189680139	0.00010
NM_006904.7(PRKDC):c.8415A>C (p.Ala2805=)	rs77033659	0.00010
NM_006904.7(PRKDC):c.154+11G>A	rs1463939061	0.00009
NM_006904.7(PRKDC):c.6936T>C (p.Tyr2312=)	rs55726602	0.00009
NM_006904.7(PRKDC):c.4311T>C (p.Tyr1437=)	rs181439210	0.00008
NM_006904.7(PRKDC):c.8043C>T (p.Ala2681=)	rs200543348	0.00006
NM_006904.7(PRKDC):c.12321G>A (p.Leu4107=)	rs192400758	0.00005
NM_006904.7(PRKDC):c.155-20T>C	rs530661663	0.00004
NM_006904.7(PRKDC):c.4072-8T>C	rs571061151	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	rs34211555
NM_006904.7(PRKDC):c.10759-11dup	rs34211555
NM_006904.7(PRKDC):c.11176-16A>G	rs78231671
NM_006904.7(PRKDC):c.11490-13del	rs2551860058
NM_006904.7(PRKDC):c.12156A>C (p.Ala4052=)	rs56395046
NM_006904.7(PRKDC):c.12183-5dup	rs545199062
NM_006904.7(PRKDC):c.1448-15dup	rs559118181
NM_006904.7(PRKDC):c.1448-4dup	rs761407459
NM_006904.7(PRKDC):c.155-13dup	rs779456543
NM_006904.7(PRKDC):c.16G>T (p.Ala6Ser)	rs8177999
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	rs2551874370
NM_006904.7(PRKDC):c.3730dup (p.Leu1244fs)	rs11411516
NM_006904.7(PRKDC):c.4072-12_4072-9del	rs575629886
NM_006904.7(PRKDC):c.5236-5dup	rs770927029
NM_006904.7(PRKDC):c.5572-13dup
NM_006904.7(PRKDC):c.5750+20del
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.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	rs768445768
NM_006904.7(PRKDC):c.8685G>A (p.Glu2895=)	rs547408689
NM_006904.7(PRKDC):c.9923-17dup	rs573568510
NM_006904.7(PRKDC):c.9923-28GTTTT[2]	rs576649177

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