ClinVar Miner

List of variants reported as uncertain significance for T-B+ severe combined immunodeficiency by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756 0.00241
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) rs147153824 0.00144
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257 0.00116
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) rs140639753 0.00083
NM_002838.5(PTPRC):c.3073-6A>G rs191867796 0.00049
NM_002838.5(PTPRC):c.3545T>C (p.Leu1182Ser) rs114970039 0.00025
NM_002838.5(PTPRC):c.2490G>C (p.Leu830Phe) rs146402228 0.00024
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro) rs201671392 0.00014
NM_000732.6(CD3D):c.450+6C>T rs193922617 0.00013
NM_000733.4(CD3E):c.580G>A (p.Gly194Ser) rs141553540 0.00011
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly) rs770237630 0.00006
NM_002185.5(IL7R):c.373A>G (p.Thr125Ala) rs145407742 0.00006
NM_198053.3(CD247):c.491G>A (p.Arg164His) rs201937405 0.00004
NM_007074.4(CORO1A):c.451+7C>T rs761205413 0.00003
NM_198053.3(CD247):c.398G>A (p.Arg133Gln) rs147527561 0.00003
NM_000215.4(JAK3):c.114C>A (p.Pro38=) rs1448668382 0.00002
NM_000215.4(JAK3):c.566+6_566+41del rs754402855
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_002838.5(PTPRC):c.2142+7A>G rs764731559
NM_002838.5(PTPRC):c.592C>A (p.Leu198Ile) rs1666552982

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.