ClinVar Miner

List of variants reported as not provided for T-B- severe combined immunodeficiency

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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.226C>T (p.Arg76Trp) rs121908736 0.00081
NM_000022.4(ADA):c.643G>A (p.Ala215Thr) rs114025668 0.00030
NM_024782.3(NHEJ1):c.170G>A (p.Arg57Gln) rs61753339 0.00022
NM_000022.4(ADA):c.986C>T (p.Ala329Val) rs121908715 0.00021
NM_000536.4(RAG2):c.1516C>T (p.Arg506Cys) rs140089249 0.00015
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716 0.00009
NM_006904.7(PRKDC):c.10033C>A (p.Pro3345Thr) rs374825096 0.00009
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739 0.00007
NM_000022.4(ADA):c.821C>T (p.Pro274Leu) rs121908738 0.00007
NM_000022.4(ADA):c.446G>A (p.Arg149Gln) rs121908737 0.00006
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723 0.00006
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721 0.00005
NM_000022.4(ADA):c.890C>A (p.Pro297Gln) rs121908718 0.00003
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728 0.00002
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719 0.00002
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717 0.00001
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.445C>T (p.Arg149Trp) rs121908733 0.00001
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735 0.00001
NM_000022.4(ADA):c.467G>A (p.Arg156His) rs121908722 0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_024782.3(NHEJ1):c.700G>A (p.Gly234Ser) rs191958428 0.00001
GRCh37/hg19 10p13(chr10:14945105-14954010)x3
NM_000022.4(ADA):c.220G>T (p.Gly74Cys) rs121908730
NM_000022.4(ADA):c.248C>A (p.Ala83Asp) rs121908726
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.302G>T (p.Arg101Leu) rs121908714
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.419G>A (p.Gly140Glu) rs121908732
NM_000022.4(ADA):c.596A>C (p.Gln199Pro) rs121908734
NM_000022.4(ADA):c.698C>T (p.Thr233Ile) rs121908729
NM_001033855.3(DCLRE1C):c.1648G>C (p.Gly550Arg) rs1588892551
NM_006904.7(PRKDC):c.3632T>A (p.Val1211Asp) rs2089506122
NM_206937.2(LIG4):c.689A>T (p.Asp230Val) rs1388798970

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.