List of variants reported as benign for Brugada syndrome 5 by Labcorp Genetics (formerly Invitae), Labcorp

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: 24

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_001037.5(SCN1B):c.448+181T>C	rs55742440	0.41721
NM_001037.5(SCN1B):c.40+15G>T	rs72556351	0.19938
NM_001037.5(SCN1B):c.448+296C>A	rs67701503	0.14005
NM_001037.5(SCN1B):c.207+14G>A	rs16969924	0.02860
NM_001037.5(SCN1B):c.501T>C (p.Ile167=)	rs16969930	0.01942
NM_001037.5(SCN1B):c.591-14C>A	rs28365109	0.00920
NM_001037.5(SCN1B):c.*76G>T	rs367768639	0.00566
NM_001037.5(SCN1B):c.300C>T (p.Asp100=)	rs16969927	0.00539
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser)	rs72552027	0.00249
NM_001037.5(SCN1B):c.267C>T (p.Arg89=)	rs140949982	0.00232
NM_001037.5(SCN1B):c.448+193G>A	rs66876876	0.00220
NM_001037.5(SCN1B):c.448+29C>T	rs186759145	0.00147
NM_001037.5(SCN1B):c.351C>T (p.Gly117=)	rs3746255	0.00115
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile)	rs72558029	0.00058
NM_001037.5(SCN1B):c.448+112G>A	rs72558026	0.00049
NM_001037.5(SCN1B):c.448+314C>A	rs373295182	0.00039
NM_001037.5(SCN1B):c.590+16G>A	rs201053958	0.00036
NM_001037.5(SCN1B):c.492T>C (p.Tyr164=)	rs535042320	0.00013
NM_001037.5(SCN1B):c.561C>T (p.Ala187=)	rs587781152	0.00005
NM_001037.5(SCN1B):c.208-4del	rs772433504
NM_001037.5(SCN1B):c.40+16dup
NM_001037.5(SCN1B):c.448+301G>A	rs67486287
NM_001037.5(SCN1B):c.591-5del	rs1218360584
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr)	rs67486287

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.