List of variants reported as not provided for B cell deficiency by GenomeConnect, ClinGen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)	rs72553883	0.00518
NM_001364905.1(LRBA):c.4855G>T (p.Val1619Leu)	rs143883830	0.00060
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)	rs72553877	0.00034
NM_203447.4(DOCK8):c.5828C>T (p.Thr1943Ile)	rs148368084	0.00025
NM_001322934.2(NFKB2):c.1972C>T (p.Arg658Trp)	rs200373995	0.00024
NM_203447.4(DOCK8):c.2383G>C (p.Val795Leu)	rs369449324	0.00007
NM_203447.4(DOCK8):c.2971-5C>T	rs373718659	0.00004
NM_181523.3(PIK3R1):c.536T>C (p.Val179Ala)	rs771949848	0.00001
NM_006846.4(SPINK5):c.964G>A (p.Asp322Asn)	rs1561686908
NM_139276.3(STAT3):c.1250G>T (p.Arg417Ile)	rs2144767285

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.