List of variants reported as likely pathogenic for Hereditary pheochromocytoma-paraganglioma by All of Us Research Program, National Institutes of Health

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: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003001.5(SDHC):c.377A>G (p.Tyr126Cys)	rs898854295	0.00003
NM_003000.3(SDHB):c.286G>A (p.Gly96Ser)	rs587782243	0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys)	rs200245469	0.00001
NM_003001.5(SDHC):c.148C>T (p.Arg50Cys)	rs587778661	0.00001
NM_003001.5(SDHC):c.215G>A (p.Arg72His)	rs778582853	0.00001
NM_003001.5(SDHC):c.374T>G (p.Met125Arg)	rs1060501387	0.00001
NM_003001.5(SDHC):c.380A>G (p.His127Arg)	rs786203457	0.00001
NM_017841.4(SDHAF2):c.37-1G>C	rs761956866	0.00001
NM_003000.3(SDHB):c.73-2A>C
NM_003001.5(SDHC):c.379C>G (p.His127Asp)	rs1485675090
NM_017841.4(SDHAF2):c.23C>A (p.Ser8Ter)	rs1254052531
NM_017841.4(SDHAF2):c.260+1G>A	rs749527870
NM_017841.4(SDHAF2):c.28del (p.Ser10fs)	rs1861838658
NM_017841.4(SDHAF2):c.9_19del (p.Ser4fs)

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.