ClinVar Miner

List of variants reported as likely benign for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 311
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_000022.4(ADA):c.110C>T (p.Ala37Val) rs151336936 0.00150
NM_000022.4(ADA):c.660G>A (p.Ser220=) rs147038410 0.00041
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463 0.00030
NM_000022.4(ADA):c.975+8G>A rs192148185 0.00029
NM_000022.4(ADA):c.770T>C (p.Met257Thr) rs145863450 0.00025
NM_000022.4(ADA):c.930G>A (p.Met310Ile) rs145924854 0.00019
NM_000022.4(ADA):c.780+7G>A rs371862936 0.00017
NM_000022.4(ADA):c.219-13C>T rs371326273 0.00016
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184 0.00014
NM_000022.4(ADA):c.827C>T (p.Thr276Met) rs756480576 0.00013
NM_000022.4(ADA):c.57C>T (p.Asp19=) rs762695968 0.00009
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154 0.00009
NM_000022.4(ADA):c.855T>C (p.Asn285=) rs374601935 0.00008
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.621C>T (p.Ser207=) rs373256688 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000022.4(ADA):c.937C>A (p.Arg313=) rs79249850 0.00006
NM_000022.4(ADA):c.381C>T (p.Asp127=) rs7344760 0.00005
NM_000022.4(ADA):c.479-8G>A rs754077913 0.00005
NM_000022.4(ADA):c.679-6C>T rs375562913 0.00005
NM_000022.4(ADA):c.1079-6G>A rs367991521 0.00004
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695 0.00004
NM_000022.4(ADA):c.525G>A (p.Gln175=) rs769506264 0.00004
NM_000022.4(ADA):c.528C>T (p.Thr176=) rs780518207 0.00004
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008 0.00004
NM_000022.4(ADA):c.663C>T (p.Ala221=) rs553639716 0.00004
NM_000022.4(ADA):c.891G>A (p.Pro297=) rs776360146 0.00004
NM_000022.4(ADA):c.96-4C>T rs764177495 0.00004
NM_000022.4(ADA):c.975+14A>G rs200660399 0.00004
NM_000022.4(ADA):c.1065T>C (p.Pro355=) rs371814756 0.00003
NM_000022.4(ADA):c.684G>A (p.Val228=) rs1047697626 0.00003
NM_000022.4(ADA):c.6C>T (p.Ala2=) rs767788896 0.00003
NM_000022.4(ADA):c.873G>A (p.Ser291=) rs143236074 0.00003
NM_000022.4(ADA):c.976-4C>T rs757375351 0.00003
NM_000022.4(ADA):c.1032C>T (p.Leu344=) rs746337420 0.00002
NM_000022.4(ADA):c.111C>T (p.Ala37=) rs374029074 0.00002
NM_000022.4(ADA):c.144C>T (p.Asn48=) rs189751145 0.00002
NM_000022.4(ADA):c.246C>T (p.Ile82=) rs761045374 0.00002
NM_000022.4(ADA):c.282C>T (p.Gly94=) rs771207375 0.00002
NM_000022.4(ADA):c.363-8T>G rs1015455929 0.00002
NM_000022.4(ADA):c.45T>C (p.His15=) rs906269498 0.00002
NM_000022.4(ADA):c.471C>T (p.His157=) rs752094197 0.00002
NM_000022.4(ADA):c.478+7A>G rs750462837 0.00002
NM_000022.4(ADA):c.781-12C>T rs773016155 0.00002
NM_000022.4(ADA):c.781-9C>T rs769511813 0.00002
NM_000022.4(ADA):c.1005C>G (p.Leu335=) rs1455729635 0.00001
NM_000022.4(ADA):c.1008A>G (p.Pro336=) rs762614678 0.00001
NM_000022.4(ADA):c.1044T>C (p.Tyr348=) rs1320932911 0.00001
NM_000022.4(ADA):c.1078+7T>C rs752992685 0.00001
NM_000022.4(ADA):c.1079-18C>T rs762154117 0.00001
NM_000022.4(ADA):c.108C>T (p.Ile36=) rs748611869 0.00001
NM_000022.4(ADA):c.117A>G (p.Pro39=) rs747148184 0.00001
NM_000022.4(ADA):c.186G>A (p.Leu62=) rs767064067 0.00001
NM_000022.4(ADA):c.216C>T (p.Ile72=) rs769218320 0.00001
NM_000022.4(ADA):c.218+10C>T rs372418784 0.00001
NM_000022.4(ADA):c.312G>A (p.Pro104=) rs765878819 0.00001
NM_000022.4(ADA):c.33+13G>C rs762896507 0.00001
NM_000022.4(ADA):c.33+9G>T rs770723333 0.00001
NM_000022.4(ADA):c.34-18C>T rs754341978 0.00001
NM_000022.4(ADA):c.363-12C>G rs367574074 0.00001
NM_000022.4(ADA):c.363-16T>C rs1314647942 0.00001
NM_000022.4(ADA):c.387G>A (p.Val129=) rs1288730009 0.00001
NM_000022.4(ADA):c.420G>C (p.Gly140=) rs1363673891 0.00001
NM_000022.4(ADA):c.432C>T (p.Phe144=) rs374413123 0.00001
NM_000022.4(ADA):c.479-4A>G rs78435059 0.00001
NM_000022.4(ADA):c.479-9C>T rs761848284 0.00001
NM_000022.4(ADA):c.504G>A (p.Leu168=) rs759425144 0.00001
NM_000022.4(ADA):c.507T>C (p.Cys169=) rs1784751932 0.00001
NM_000022.4(ADA):c.606+9T>C rs2065360149 0.00001
NM_000022.4(ADA):c.639C>T (p.Val213=) rs575603724 0.00001
NM_000022.4(ADA):c.645C>T (p.Ala215=) rs748671151 0.00001
NM_000022.4(ADA):c.651G>A (p.Glu217=) rs1163524809 0.00001
NM_000022.4(ADA):c.672A>G (p.Val224=) rs753855163 0.00001
NM_000022.4(ADA):c.679-8C>T rs886056707 0.00001
NM_000022.4(ADA):c.687C>A (p.Asp229Glu) rs747172905 0.00001
NM_000022.4(ADA):c.699A>G (p.Thr233=) rs1218317197 0.00001
NM_000022.4(ADA):c.777C>T (p.Phe259=) rs772309012 0.00001
NM_000022.4(ADA):c.781-10G>A rs1428296713 0.00001
NM_000022.4(ADA):c.781-4C>G rs374812597 0.00001
NM_000022.4(ADA):c.828G>A (p.Thr276=) rs1269140539 0.00001
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) rs547569818 0.00001
NM_000022.4(ADA):c.942C>T (p.Asp314=) rs1398609180 0.00001
NM_000022.4(ADA):c.1011A>G (p.Glu337=)
NM_000022.4(ADA):c.1020G>A (p.Lys340=) rs761572884
NM_000022.4(ADA):c.1023G>A (p.Arg341=)
NM_000022.4(ADA):c.1026G>A (p.Glu342=)
NM_000022.4(ADA):c.1035C>T (p.Asp345=)
NM_000022.4(ADA):c.1038G>A (p.Leu346=) rs2123507798
NM_000022.4(ADA):c.1078+14T>A
NM_000022.4(ADA):c.1078+8C>G
NM_000022.4(ADA):c.1079-12A>G
NM_000022.4(ADA):c.1079-14G>A
NM_000022.4(ADA):c.1079-16C>T
NM_000022.4(ADA):c.1079-20T>C
NM_000022.4(ADA):c.1079-7C>A
NM_000022.4(ADA):c.1089C>T (p.Leu363=) rs375339591
NM_000022.4(ADA):c.126A>G (p.Thr42=)
NM_000022.4(ADA):c.12G>T (p.Thr4=)
NM_000022.4(ADA):c.132G>A (p.Glu44=)
NM_000022.4(ADA):c.135G>A (p.Gly45=) rs2065409509
NM_000022.4(ADA):c.135G>C (p.Gly45=)
NM_000022.4(ADA):c.138G>A (p.Leu46=)
NM_000022.4(ADA):c.141G>A (p.Leu47=)
NM_000022.4(ADA):c.150T>C (p.Ile50=)
NM_000022.4(ADA):c.153C>T (p.Gly51=)
NM_000022.4(ADA):c.159C>T (p.Asp53=)
NM_000022.4(ADA):c.15C>A (p.Pro5=)
NM_000022.4(ADA):c.15C>G (p.Pro5=) rs1377009879
NM_000022.4(ADA):c.15C>T (p.Pro5=)
NM_000022.4(ADA):c.165G>A (p.Pro55=) rs764188731
NM_000022.4(ADA):c.165G>T (p.Pro55=) rs764188731
NM_000022.4(ADA):c.168C>T (p.Leu56=)
NM_000022.4(ADA):c.177A>T (p.Pro59=) rs2145324680
NM_000022.4(ADA):c.184C>T (p.Leu62=)
NM_000022.4(ADA):c.201C>T (p.Tyr67=) rs1419063255
NM_000022.4(ADA):c.210T>C (p.Pro70=)
NM_000022.4(ADA):c.218+10C>A rs372418784
NM_000022.4(ADA):c.218+11C>T
NM_000022.4(ADA):c.218+14A>C
NM_000022.4(ADA):c.218+15A>G
NM_000022.4(ADA):c.218+17C>G rs2145324527
NM_000022.4(ADA):c.218+17C>T
NM_000022.4(ADA):c.218+20C>T
NM_000022.4(ADA):c.219-10C>T
NM_000022.4(ADA):c.219-16T>G
NM_000022.4(ADA):c.219-17C>T
NM_000022.4(ADA):c.219-8C>T rs2065385208
NM_000022.4(ADA):c.219-9C>T
NM_000022.4(ADA):c.222C>A (p.Gly74=) rs2145320054
NM_000022.4(ADA):c.225C>T (p.Cys75=)
NM_000022.4(ADA):c.234T>C (p.Ala78=) rs2145320017
NM_000022.4(ADA):c.252T>C (p.Tyr84=) rs372137742
NM_000022.4(ADA):c.255G>A (p.Glu85=) rs2145319943
NM_000022.4(ADA):c.279G>A (p.Glu93=)
NM_000022.4(ADA):c.282C>G (p.Gly94=) rs771207375
NM_000022.4(ADA):c.288G>A (p.Val96=)
NM_000022.4(ADA):c.291T>C (p.Tyr97=) rs2065384066
NM_000022.4(ADA):c.303G>C (p.Arg101=) rs1452724917
NM_000022.4(ADA):c.315C>T (p.His105=)
NM_000022.4(ADA):c.324C>T (p.Ala108=)
NM_000022.4(ADA):c.33+10C>G
NM_000022.4(ADA):c.33+12C>G
NM_000022.4(ADA):c.33+13G>A
NM_000022.4(ADA):c.33+17G>A
NM_000022.4(ADA):c.33+17G>T
NM_000022.4(ADA):c.34-10C>T
NM_000022.4(ADA):c.34-12G>A
NM_000022.4(ADA):c.34-16C>T
NM_000022.4(ADA):c.34-20T>C
NM_000022.4(ADA):c.34-29CT[3]
NM_000022.4(ADA):c.34-6T>C rs1251733870
NM_000022.4(ADA):c.348C>G (p.Pro116=) rs2145319670
NM_000022.4(ADA):c.357G>A (p.Gln119=)
NM_000022.4(ADA):c.360T>C (p.Ala120=)
NM_000022.4(ADA):c.362+12G>A
NM_000022.4(ADA):c.362+13C>T
NM_000022.4(ADA):c.363-11T>C
NM_000022.4(ADA):c.372C>T (p.Leu124=)
NM_000022.4(ADA):c.375C>T (p.Thr125=)
NM_000022.4(ADA):c.399G>A (p.Val133=) rs2145318189
NM_000022.4(ADA):c.408C>A (p.Gly136=)
NM_000022.4(ADA):c.411G>T (p.Leu137=)
NM_000022.4(ADA):c.424C>A (p.Arg142=)
NM_000022.4(ADA):c.435G>C (p.Gly145=) rs1268573720
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
NM_000022.4(ADA):c.478+12C>G
NM_000022.4(ADA):c.478+15C>T
NM_000022.4(ADA):c.478+16G>A
NM_000022.4(ADA):c.478+18C>T
NM_000022.4(ADA):c.478+20T>G
NM_000022.4(ADA):c.478+8G>A rs2145317902
NM_000022.4(ADA):c.479-14C>A
NM_000022.4(ADA):c.479-19G>A
NM_000022.4(ADA):c.479-20G>A
NM_000022.4(ADA):c.479-6C>T
NM_000022.4(ADA):c.479-7C>T
NM_000022.4(ADA):c.486C>A (p.Ser162=) rs760888818
NM_000022.4(ADA):c.486C>T (p.Ser162=)
NM_000022.4(ADA):c.489C>G (p.Pro163=) rs2065362080
NM_000022.4(ADA):c.48C>T (p.Val16=) rs2145338144
NM_000022.4(ADA):c.498G>A (p.Val166=) rs2145315898
NM_000022.4(ADA):c.516C>T (p.Tyr172=)
NM_000022.4(ADA):c.528C>G (p.Thr176=) rs780518207
NM_000022.4(ADA):c.537C>T (p.Ala179=) rs1350687211
NM_000022.4(ADA):c.543C>T (p.Asp181=) rs764244541
NM_000022.4(ADA):c.546G>T (p.Leu182=)
NM_000022.4(ADA):c.552A>C (p.Gly184=) rs2145315694
NM_000022.4(ADA):c.558G>A (p.Glu186=) rs1410010771
NM_000022.4(ADA):c.561C>A (p.Thr187=)
NM_000022.4(ADA):c.561C>T (p.Thr187=)
NM_000022.4(ADA):c.567A>G (p.Pro189=)
NM_000022.4(ADA):c.573C>T (p.Ser191=) rs1469122145
NM_000022.4(ADA):c.600C>A (p.Ala200=) rs2145315464
NM_000022.4(ADA):c.603C>T (p.Tyr201=)
NM_000022.4(ADA):c.606+10G>T rs201045221
NM_000022.4(ADA):c.606+15_606+17del rs776587269
NM_000022.4(ADA):c.606+8C>T
NM_000022.4(ADA):c.607-11C>T
NM_000022.4(ADA):c.607-12dup
NM_000022.4(ADA):c.607-13C>T
NM_000022.4(ADA):c.607-16G>C rs369386306
NM_000022.4(ADA):c.607-4C>G rs1417471985
NM_000022.4(ADA):c.607-7C>G rs779676480
NM_000022.4(ADA):c.607-7C>T rs779676480
NM_000022.4(ADA):c.607-8C>A rs751830380
NM_000022.4(ADA):c.607-8C>T rs751830380
NM_000022.4(ADA):c.607-9C>T
NM_000022.4(ADA):c.612T>A (p.Ala204=) rs1469964785
NM_000022.4(ADA):c.636T>C (p.Thr212=)
NM_000022.4(ADA):c.645C>G (p.Ala215=)
NM_000022.4(ADA):c.648G>A (p.Gly216=) rs1568843748
NM_000022.4(ADA):c.654G>T (p.Val218=)
NM_000022.4(ADA):c.660G>C (p.Ser220=) rs147038410
NM_000022.4(ADA):c.678+12G>C
NM_000022.4(ADA):c.678+13del
NM_000022.4(ADA):c.678+17G>A
NM_000022.4(ADA):c.678+20A>G
NM_000022.4(ADA):c.679-17A>T
NM_000022.4(ADA):c.679-7T>C
NM_000022.4(ADA):c.693C>G (p.Leu231=)
NM_000022.4(ADA):c.703C>A (p.Arg235=)
NM_000022.4(ADA):c.705G>C (p.Arg235=) rs2123518248
NM_000022.4(ADA):c.706C>T (p.Leu236=)
NM_000022.4(ADA):c.708G>A (p.Leu236=) rs757155433
NM_000022.4(ADA):c.723C>T (p.His241=)
NM_000022.4(ADA):c.727C>T (p.Leu243=)
NM_000022.4(ADA):c.729G>C (p.Leu243=) rs755578452
NM_000022.4(ADA):c.741C>T (p.Ala247=)
NM_000022.4(ADA):c.747T>C (p.Tyr249=) rs2123518034
NM_000022.4(ADA):c.753G>A (p.Arg251=)
NM_000022.4(ADA):c.757C>A (p.Arg253=) rs201944717
NM_000022.4(ADA):c.765A>G (p.Glu255=) rs761098217
NM_000022.4(ADA):c.780+15G>T
NM_000022.4(ADA):c.780+16A>G
NM_000022.4(ADA):c.780+17G>A
NM_000022.4(ADA):c.780+18T>C
NM_000022.4(ADA):c.780+19G>T
NM_000022.4(ADA):c.780+7G>C rs371862936
NM_000022.4(ADA):c.780+8G>T
NM_000022.4(ADA):c.781-17C>T
NM_000022.4(ADA):c.781-18A>C
NM_000022.4(ADA):c.781-4C>T rs374812597
NM_000022.4(ADA):c.781-8T>C
NM_000022.4(ADA):c.781-8T>G
NM_000022.4(ADA):c.795C>T (p.Ser265=) rs1318848804
NM_000022.4(ADA):c.801C>T (p.Tyr267=) rs2123516817
NM_000022.4(ADA):c.807T>G (p.Thr269=) rs2123516814
NM_000022.4(ADA):c.810T>C (p.Gly270=)
NM_000022.4(ADA):c.813C>T (p.Ala271=)
NM_000022.4(ADA):c.822G>T (p.Pro274=) rs562095440
NM_000022.4(ADA):c.825C>T (p.Asp275=) rs778167423
NM_000022.4(ADA):c.831G>A (p.Glu277=)
NM_000022.4(ADA):c.837A>G (p.Ala279=)
NM_000022.4(ADA):c.845+13C>T
NM_000022.4(ADA):c.845+15C>T
NM_000022.4(ADA):c.845+17T>A
NM_000022.4(ADA):c.845+17T>G
NM_000022.4(ADA):c.845+18G>C
NM_000022.4(ADA):c.845+20G>A
NM_000022.4(ADA):c.846-12C>T
NM_000022.4(ADA):c.846-13C>T
NM_000022.4(ADA):c.846-17T>G
NM_000022.4(ADA):c.846-5T>C
NM_000022.4(ADA):c.846-7T>G rs1453879636
NM_000022.4(ADA):c.846-9C>G
NM_000022.4(ADA):c.846-9C>T
NM_000022.4(ADA):c.861G>A (p.Gln287=)
NM_000022.4(ADA):c.870C>T (p.Tyr290=) rs2065327638
NM_000022.4(ADA):c.882A>C (p.Thr294=) rs2123511182
NM_000022.4(ADA):c.888C>T (p.Asp296=) rs2123511163
NM_000022.4(ADA):c.894C>T (p.Leu298=)
NM_000022.4(ADA):c.906C>T (p.Ser302=) rs2123510993
NM_000022.4(ADA):c.909C>T (p.Thr303=) rs2065326970
NM_000022.4(ADA):c.912G>A (p.Leu304=)
NM_000022.4(ADA):c.933C>G (p.Thr311=)
NM_000022.4(ADA):c.939G>C (p.Arg313=) rs2123510810
NM_000022.4(ADA):c.93C>A (p.Gly31=)
NM_000022.4(ADA):c.948C>T (p.Gly316=) rs750404746
NM_000022.4(ADA):c.95+10T>C rs1347064693
NM_000022.4(ADA):c.95+11A>G
NM_000022.4(ADA):c.95+13A>G
NM_000022.4(ADA):c.95+17G>A
NM_000022.4(ADA):c.95+17G>C
NM_000022.4(ADA):c.954T>C (p.Thr318=)
NM_000022.4(ADA):c.96-10T>C
NM_000022.4(ADA):c.96-10T>G rs2145324983
NM_000022.4(ADA):c.96-12T>C rs2065410397
NM_000022.4(ADA):c.96-17_96-14del
NM_000022.4(ADA):c.96-20A>C
NM_000022.4(ADA):c.96-6T>C
NM_000022.4(ADA):c.96-7T>C rs2145324973
NM_000022.4(ADA):c.975+10T>C rs373146145
NM_000022.4(ADA):c.975+13G>A
NM_000022.4(ADA):c.975+13G>C
NM_000022.4(ADA):c.975+15G>C
NM_000022.4(ADA):c.975+18A>T
NM_000022.4(ADA):c.975+19_975+20insG
NM_000022.4(ADA):c.975+7G>C rs2123510571
NM_000022.4(ADA):c.975+8G>T rs192148185
NM_000022.4(ADA):c.975+9del rs2123510552
NM_000022.4(ADA):c.976-10G>A
NM_000022.4(ADA):c.976-14del
NM_000022.4(ADA):c.976-15T>C
NM_000022.4(ADA):c.976-17C>T
NM_000022.4(ADA):c.976-19G>C
NM_000022.4(ADA):c.976-4C>G rs757375351
NM_000022.4(ADA):c.976-8C>A rs2123508190
NM_000022.4(ADA):c.976-9C>G
NM_000022.4(ADA):c.99G>A (p.Arg33=) rs1357860118

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.