ClinVar Miner

List of variants studied for Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Illumina Laboratory Services, Illumina

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076 0.24494
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000022.3(ADA):c.-101G>A rs36216718 0.04373
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828 0.00639
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_000022.4(ADA):c.95+9A>G rs765216 0.00319
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_000022.4(ADA):c.*4C>T rs183914222 0.00090
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736 0.00081
NM_000022.4(ADA):c.*282C>T rs188755077 0.00055
NM_000022.3(ADA):c.-123G>A rs997075639 0.00016
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695 0.00004
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008 0.00004
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 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.899T>G (p.Phe300Cys) rs371305751 0.00002
NM_000022.4(ADA):c.*174T>A rs886056706 0.00001
NM_000022.4(ADA):c.-28G>C rs1186616350 0.00001
NM_000022.4(ADA):c.-67C>T rs926706024 0.00001
NM_000022.4(ADA):c.145G>A (p.Val49Ile) rs1306348962 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.941A>G (p.Asp314Gly) rs547569818 0.00001
NM_000022.4(ADA):c.*152C>T rs560858565
NM_000022.4(ADA):c.*173G>C rs11906526
NM_000022.4(ADA):c.-10C>G rs886056709
NM_000022.4(ADA):c.115C>G (p.Pro39Ala) rs2065409743
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.594C>T (p.Val198=) rs886056708
NM_000022.4(ADA):c.688A>C (p.Ile230Leu) rs775436011

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