List of variants reported as likely pathogenic for Carney-Stratakis syndrome; Pheochromocytoma; Paragangliomas with sensorineural hearing loss; Cowden syndrome 3

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_003002.4(SDHD):c.53-1G>T	rs1291507545	0.00001
NC_000011.9:g.(?_111959651)_(111960112_?)del
NM_003002.4(SDHD):c.148C>G (p.His50Asp)	rs779249550
NM_003002.4(SDHD):c.169+5G>C	rs1865657237
NM_003002.4(SDHD):c.275A>T (p.Asp92Val)	rs786205436
NM_003002.4(SDHD):c.304C>A (p.His102Asn)	rs786202403
NM_003002.4(SDHD):c.304C>T (p.His102Tyr)	rs786202403
NM_003002.4(SDHD):c.305A>C (p.His102Pro)	rs104894302
NM_003002.4(SDHD):c.315-2A>G	rs2135277333
NM_003002.4(SDHD):c.340T>C (p.Tyr114His)	rs876659276
NM_003002.4(SDHD):c.413G>A (p.Gly138Glu)	rs1401695686
NM_003002.4(SDHD):c.413G>T (p.Gly138Val)	rs1401695686
NM_003002.4(SDHD):c.416T>G (p.Leu139Arg)	rs80338847
NM_003002.4(SDHD):c.44_52+24del	rs1865621296
NM_003002.4(SDHD):c.53-2A>C

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.