ClinVar Miner

List of variants reported as benign for T-B- severe combined immunodeficiency by Invitae

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.36= (p.Val12=) rs394105
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828
NM_000022.4(ADA):c.95+9A>G rs765216
NM_000448.2(RAG1):c.1346G>A (p.Arg449Lys) rs4151031
NM_000448.2(RAG1):c.189A>G (p.Pro63=) rs34357808
NM_000448.2(RAG1):c.2451A>G (p.Glu817=) rs61758791
NM_000448.2(RAG1):c.251A>G (p.His84Arg) rs150199231
NM_000448.2(RAG1):c.2571C>T (p.Ala857=) rs141560248
NM_000448.2(RAG1):c.2638G>A (p.Glu880Lys) rs4151033
NM_000448.2(RAG1):c.2659G>A (p.Asp887Asn) rs4151034
NM_000448.2(RAG1):c.303G>A (p.Ala101=) rs4151025
NM_000448.2(RAG1):c.577G>A (p.Glu193Lys) rs34841221
NM_000448.2(RAG1):c.725A>G (p.Gln242Arg) rs76897604
NM_000448.2(RAG1):c.746G>A (p.Arg249His) rs3740955
NM_000448.2(RAG1):c.906C>A (p.Asp302Glu) rs4151030
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000536.4(RAG2):c.741G>A (p.Val247=) rs34092949
NM_000536.4(RAG2):c.878A>G (p.Glu293Gly) rs16929093
NM_001033855.3(DCLRE1C):c.1008C>T (p.Asn336=) rs115524993
NM_001033855.3(DCLRE1C):c.1503T>C (p.Asp501=) rs41300670
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163
NM_001033855.3(DCLRE1C):c.227G>C (p.Arg76Thr) rs41296438
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001033855.3(DCLRE1C):c.959C>G (p.Ser320Cys) rs41298896
NM_001625.4(AK2):c.255G>A (p.Lys85=) rs41301072
NM_001625.4(AK2):c.386G>A (p.Ser129Asn) rs61750965
NM_001625.4(AK2):c.571C>G (p.His191Asp) rs80324279
NM_001625.4(AK2):c.625G>A (p.Ala209Thr) rs12116440
NM_005356.5(LCK):c.1328-7C>T rs577301476
NM_005356.5(LCK):c.134G>A (p.Arg45Gln) rs145088108
NM_005356.5(LCK):c.161C>G (p.Ser54Cys) rs147431889
NM_005356.5(LCK):c.171G>A (p.Pro57=) rs528967735
NM_005356.5(LCK):c.888A>G (p.Gln296=) rs35029770
NM_006904.6(PRKDC):c.10211G>A (p.Gly3404Glu) rs8178225
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.10750C>T (p.Leu3584Phe) rs55866966
NM_006904.6(PRKDC):c.11379T>C (p.Val3793=) rs55769154
NM_006904.6(PRKDC):c.11805C>T (p.Gly3935=) rs8178249
NM_006904.6(PRKDC):c.12138C>T (p.Tyr4046=) rs56123237
NM_006904.6(PRKDC):c.1338C>A (p.Phe446Leu) rs61729514
NM_006904.6(PRKDC):c.16G>T (p.Ala6Ser) rs8177999
NM_006904.6(PRKDC):c.1814C>G (p.Thr605Ser) rs8178033
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.2934+5G>C rs8178060
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.3759G>A (p.Thr1253=) rs8178087
NM_006904.6(PRKDC):c.4072-12_4072-9delAATC rs575629886
NM_006904.6(PRKDC):c.4809G>T (p.Gln1603His) rs8178106
NM_006904.6(PRKDC):c.5088T>G (p.Leu1696=) rs6992074
NM_006904.6(PRKDC):c.5235+10T>A rs8178111
NM_006904.6(PRKDC):c.6067T>C (p.Ser2023Pro) rs56042895
NM_006904.6(PRKDC):c.6338_6340del (p.Gly2113del) rs79703138
NM_006904.6(PRKDC):c.6441C>G (p.Ala2147=) rs376156239
NM_006904.6(PRKDC):c.6480C>T (p.Tyr2160=) rs55991828
NM_006904.6(PRKDC):c.6936T>C (p.Tyr2312=) rs55726602
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.8695C>T (p.Arg2899Cys) rs4278157
NM_006904.6(PRKDC):c.9030A>T (p.Ser3010=) rs759496711
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.9446G>A (p.Gly3149Asp) rs8178208
NM_006904.6(PRKDC):c.9558-8T>C rs138258308
NM_006904.6(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216
NM_006904.6(PRKDC):c.967-10G>T rs186115112
NM_006904.6(PRKDC):c.9933C>T (p.Asn3311=) rs201592874
NM_006904.6(PRKDC):c.999G>A (p.Met333Ile) rs8178017

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