List of variants reported as pathogenic for paragangliomas 4 by OMIM

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: 16

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003000.3(SDHB):c.418G>T (p.Val140Phe)	rs267607032	0.00003
NM_003000.3(SDHB):c.79C>T (p.Arg27Ter)	rs74315369	0.00003
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter)	rs74315366	0.00001
NM_003000.3(SDHB):c.423+1G>A	rs398122805	0.00001
NM_003000.3(SDHB):c.689G>A (p.Arg230His)	rs587782604	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NC_000001.10:g.17375249_17390927del15679
NC_000001.10:g.17376556_17396932del20377
NM_003000.3(SDHB):c.(-151_-1)_(72+1_73-1)del
NM_003000.3(SDHB):c.136C>G (p.Arg46Gly)	rs74315370
NM_003000.3(SDHB):c.201-4429_287-934del
NM_003000.3(SDHB):c.302G>A (p.Cys101Tyr)	rs74315371
NM_003000.3(SDHB):c.395A>C (p.His132Pro)	rs74315372
NM_003000.3(SDHB):c.590C>G (p.Pro197Arg)	rs74315367
NM_003000.3(SDHB):c.591del (p.Ser198fs)	rs1060503757
NM_003000.3(SDHB):c.716_719del (p.Ser239fs)	rs587781266

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.