ClinVar Miner

List of variants in gene ADA reported as uncertain significance for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 126
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736 0.00081
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463 0.00030
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_000022.4(ADA):c.975+8G>A rs192148185 0.00029
NM_000022.4(ADA):c.758G>A (p.Arg253Gln) rs148994526 0.00019
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.664G>A (p.Glu222Lys) rs371353841 0.00011
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154 0.00009
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738 0.00007
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737 0.00006
NM_000022.4(ADA):c.844C>T (p.Arg282Trp) rs559798694 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000022.4(ADA):c.934A>C (p.Lys312Gln) rs530131290 0.00005
NM_000022.4(ADA):c.260T>C (p.Val87Ala) rs778994749 0.00004
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008 0.00004
NM_000022.4(ADA):c.227G>A (p.Arg76Gln) rs374983783 0.00003
NM_000022.4(ADA):c.362+4A>G rs370857405 0.00003
NM_000022.4(ADA):c.508A>G (p.Lys170Glu) rs371134570 0.00003
NM_000022.4(ADA):c.578T>A (p.Leu193His) rs767083081 0.00003
NM_000022.4(ADA):c.622G>A (p.Gly208Ser) rs761846813 0.00003
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000022.4(ADA):c.739G>A (p.Ala247Thr) rs754578956 0.00003
NM_000022.4(ADA):c.781-4_781-3insTGGAAGAG rs781605283 0.00003
NM_000022.4(ADA):c.992A>C (p.Lys331Thr) rs372131830 0.00003
NM_000022.4(ADA):c.*162G>A rs901060573 0.00002
NM_000022.4(ADA):c.282C>T (p.Gly94=) rs771207375 0.00002
NM_000022.4(ADA):c.283G>A (p.Val95Met) rs145963969 0.00002
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.608A>C (p.Glu203Ala) rs200089190 0.00002
NM_000022.4(ADA):c.618G>T (p.Lys206Asn) rs750364735 0.00002
NM_000022.4(ADA):c.831G>T (p.Glu277Asp) rs542229902 0.00002
NM_000022.4(ADA):c.899T>G (p.Phe300Cys) rs371305751 0.00002
NM_000022.4(ADA):c.932C>T (p.Thr311Ile) rs773914135 0.00002
NM_000022.4(ADA):c.*174T>A rs886056706 0.00001
NM_000022.4(ADA):c.251A>G (p.Tyr84Cys) rs772021681 0.00001
NM_000022.4(ADA):c.286G>A (p.Val96Met) rs1316605272 0.00001
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.313C>T (p.His105Tyr) rs201522960 0.00001
NM_000022.4(ADA):c.349T>C (p.Trp117Arg) rs771162170 0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.479-9C>T rs761848284 0.00001
NM_000022.4(ADA):c.500A>G (p.Glu167Gly) rs372671189 0.00001
NM_000022.4(ADA):c.574A>G (p.Ser192Gly) rs1246778030 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 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.778G>A (p.Glu260Lys) rs1235719506 0.00001
NM_000022.4(ADA):c.780+6C>T rs774759287 0.00001
NM_000022.4(ADA):c.845G>A (p.Arg282Gln) rs751635016 0.00001
NM_000022.4(ADA):c.902A>G (p.Lys301Arg) rs1416109540 0.00001
NM_000022.4(ADA):c.935A>G (p.Lys312Arg) rs748974674 0.00001
NM_000022.4(ADA):c.938G>A (p.Arg313Gln) rs747500864 0.00001
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) rs547569818 0.00001
NM_000022.4(ADA):c.944T>C (p.Met315Thr) rs758501653 0.00001
NC_000020.10:g.(?_43257668)_(43257830_?)del
NM_000022.4(ADA):c.*152C>T rs560858565
NM_000022.4(ADA):c.1009G>A (p.Glu337Lys)
NM_000022.4(ADA):c.1033G>T (p.Asp345Tyr) rs779530705
NM_000022.4(ADA):c.1037del (p.Leu346fs)
NM_000022.4(ADA):c.1040_1041insAT (p.Tyr348fs) rs2123507789
NM_000022.4(ADA):c.1051dup (p.Tyr351fs)
NM_000022.4(ADA):c.1054G>A (p.Gly352Arg) rs2065316932
NM_000022.4(ADA):c.1058T>A (p.Met353Lys)
NM_000022.4(ADA):c.1060C>T (p.Pro354Ser) rs2123507717
NM_000022.4(ADA):c.1075G>T (p.Ala359Ser)
NM_000022.4(ADA):c.1077A>T (p.Ala359=) rs2065316590
NM_000022.4(ADA):c.1078+2T>C
NM_000022.4(ADA):c.1091del (p.Leu363_Ter364insTer) rs1555843039
NM_000022.4(ADA):c.219G>A (p.Ala73=) rs2145320070
NM_000022.4(ADA):c.224G>A (p.Cys75Tyr) rs2065385037
NM_000022.4(ADA):c.225C>G (p.Cys75Trp) rs2065384997
NM_000022.4(ADA):c.248C>G (p.Ala83Gly) rs121908726
NM_000022.4(ADA):c.272C>T (p.Ala91Val) rs2065384431
NM_000022.4(ADA):c.281G>A (p.Gly94Asp)
NM_000022.4(ADA):c.298G>A (p.Val100Met) rs1386689344
NM_000022.4(ADA):c.331A>G (p.Lys111Glu)
NM_000022.4(ADA):c.355C>A (p.Gln119Lys)
NM_000022.4(ADA):c.362+5G>C
NM_000022.4(ADA):c.362+6T>C rs200539724
NM_000022.4(ADA):c.363-3C>T
NM_000022.4(ADA):c.367G>A (p.Asp123Asn) rs1458135388
NM_000022.4(ADA):c.368A>C (p.Asp123Ala)
NM_000022.4(ADA):c.418G>C (p.Gly140Arg) rs746917604
NM_000022.4(ADA):c.422A>C (p.Glu141Ala) rs1600923570
NM_000022.4(ADA):c.433G>C (p.Gly145Arg) rs1568845422
NM_000022.4(ADA):c.442G>T (p.Ala148Ser)
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
NM_000022.4(ADA):c.446G>T (p.Arg149Leu) rs121908737
NM_000022.4(ADA):c.452T>C (p.Ile151Thr) rs990121469
NM_000022.4(ADA):c.467G>T (p.Arg156Leu) rs121908722
NM_000022.4(ADA):c.478+6T>A rs1555844600
NM_000022.4(ADA):c.479-3_479-2del rs1555844457
NM_000022.4(ADA):c.556G>A (p.Glu186Lys) rs1555844416
NM_000022.4(ADA):c.569G>A (p.Gly190Glu)
NM_000022.4(ADA):c.572G>A (p.Ser191Asn) rs2065360796
NM_000022.4(ADA):c.594C>T (p.Val198=) rs886056708
NM_000022.4(ADA):c.596A>G (p.Gln199Arg)
NM_000022.4(ADA):c.613_615del (p.Val205del)
NM_000022.4(ADA):c.659C>T (p.Ser220Leu) rs747167602
NM_000022.4(ADA):c.661G>A (p.Ala221Thr) rs2065347889
NM_000022.4(ADA):c.679-3C>G rs2065346802
NM_000022.4(ADA):c.679-3C>T
NM_000022.4(ADA):c.688A>C (p.Ile230Leu) rs775436011
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_000022.4(ADA):c.700G>A (p.Glu234Lys) rs2065346506
NM_000022.4(ADA):c.701A>G (p.Glu234Gly)
NM_000022.4(ADA):c.708G>A (p.Leu236=) rs757155433
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.751A>T (p.Arg251Trp) rs1254815787
NM_000022.4(ADA):c.771G>A (p.Met257Ile)
NM_000022.4(ADA):c.772C>T (p.His258Tyr)
NM_000022.4(ADA):c.780+4A>G
NM_000022.4(ADA):c.800A>C (p.Tyr267Ser) rs370450947
NM_000022.4(ADA):c.825C>T (p.Asp275=) rs778167423
NM_000022.4(ADA):c.850A>G (p.Lys284Glu) rs2123511375
NM_000022.4(ADA):c.867C>G (p.Asn289Lys)
NM_000022.4(ADA):c.893T>G (p.Leu298Arg)
NM_000022.4(ADA):c.902A>T (p.Lys301Met)
NM_000022.4(ADA):c.937C>T (p.Arg313Trp) rs79249850
NM_000022.4(ADA):c.940G>T (p.Asp314Tyr)
NM_000022.4(ADA):c.972G>C (p.Arg324Ser)

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