ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to ADA deficiency by Illumina Clinical Services Laboratory,Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
Download table as spreadsheet
HGVS dbSNP
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.4(ADA):c.*152C>T rs560858565
NM_000022.4(ADA):c.*162G>A
NM_000022.4(ADA):c.*173G>C rs11906526
NM_000022.4(ADA):c.*174T>A rs886056706
NM_000022.4(ADA):c.*282C>T rs188755077
NM_000022.4(ADA):c.*4C>T
NM_000022.4(ADA):c.-10C>G rs886056709
NM_000022.4(ADA):c.-28G>C
NM_000022.4(ADA):c.-67C>T
NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.282C>T (p.Gly94=)
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
NM_000022.4(ADA):c.446G>T (p.Arg149Leu)
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.594C>T (p.Val198=) rs886056708
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.672A>G (p.Val224=)
NM_000022.4(ADA):c.679-8C>T rs886056707
NM_000022.4(ADA):c.688A>C (p.Ile230Leu)
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828
NM_000022.4(ADA):c.899T>G (p.Phe300Cys)
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
NM_000022.4(ADA):c.95+9A>G rs765216
NM_001322050.1(ADA):c.-390G>A rs36216718
NM_001322050.1(ADA):c.-412G>A

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.