List of variants in gene LRBA reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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

Total variants: 38

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn)	rs151286835	0.00113
NM_001364905.1(LRBA):c.2209G>A (p.Val737Ile)	rs151213445	0.00078
NM_001364905.1(LRBA):c.6036C>T (p.Ala2012=)	rs145411537	0.00068
NM_001364905.1(LRBA):c.1771T>C (p.Tyr591His)	rs138890467	0.00038
NM_001364905.1(LRBA):c.6848A>T (p.Asp2283Val)	rs147096866	0.00012
NM_001364905.1(LRBA):c.5876A>G (p.Asn1959Ser)	rs369187914	0.00010
NM_001364905.1(LRBA):c.6827G>A (p.Arg2276His)	rs200802435	0.00010
NM_001364905.1(LRBA):c.5831A>G (p.Tyr1944Cys)	rs150829802	0.00008
NM_001364905.1(LRBA):c.1931C>T (p.Pro644Leu)	rs371718439	0.00007
NM_001364905.1(LRBA):c.2662G>A (p.Glu888Lys)	rs200640538	0.00006
NM_001364905.1(LRBA):c.4793C>T (p.Ser1598Leu)	rs370438098	0.00006
NM_001364905.1(LRBA):c.7888G>A (p.Val2630Ile)	rs564067785	0.00005
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)	rs745608560	0.00004
NM_001364905.1(LRBA):c.3202A>G (p.Thr1068Ala)	rs375113636	0.00002
NM_001364905.1(LRBA):c.3244A>G (p.Ile1082Val)	rs553088346	0.00002
NM_001364905.1(LRBA):c.782A>G (p.Lys261Arg)	rs375175981	0.00002
NM_001364905.1(LRBA):c.1774A>G (p.Thr592Ala)	rs373175911	0.00001
NM_001364905.1(LRBA):c.240G>A (p.Leu80=)	rs765297527	0.00001
NM_001364905.1(LRBA):c.4763C>T (p.Thr1588Met)	rs150879069	0.00001
NM_001364905.1(LRBA):c.4975G>A (p.Gly1659Arg)	rs1746594596	0.00001
NM_001364905.1(LRBA):c.6037G>A (p.Val2013Met)	rs747204894	0.00001
NM_001364905.1(LRBA):c.7010G>A (p.Arg2337Gln)	rs1198087317	0.00001
NM_001364905.1(LRBA):c.8064G>T (p.Glu2688Asp)	rs984876178	0.00001
NM_001364905.1(LRBA):c.8426G>A (p.Cys2809Tyr)	rs1470296037	0.00001
NM_001364905.1(LRBA):c.1924+4_1924+7del	rs1355259232
NM_001364905.1(LRBA):c.2439A>G (p.Ile813Met)	rs2127000700
NM_001364905.1(LRBA):c.3196A>G (p.Ile1066Val)
NM_001364905.1(LRBA):c.4080C>T (p.Leu1360=)
NM_001364905.1(LRBA):c.4112C>T (p.Ala1371Val)	rs1578989457
NM_001364905.1(LRBA):c.4228C>G (p.Leu1410Val)	rs1578987261
NM_001364905.1(LRBA):c.4907C>G (p.Ala1636Gly)	rs1315950546
NM_001364905.1(LRBA):c.5069C>T (p.Ala1690Val)
NM_001364905.1(LRBA):c.5522T>C (p.Leu1841Pro)	rs752995422
NM_001364905.1(LRBA):c.6274G>A (p.Glu2092Lys)	rs769501419
NM_001364905.1(LRBA):c.6735A>T (p.Glu2245Asp)
NM_001364905.1(LRBA):c.6766A>G (p.Arg2256Gly)	rs1561218846
NM_001364905.1(LRBA):c.7619A>G (p.His2540Arg)	rs2126925023
NM_001364905.1(LRBA):c.8450C>T (p.Ala2817Val)	rs142943481

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.