ClinVar Miner

List of variants reported as pathogenic for Carney-Stratakis syndrome by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
Download table as spreadsheet
HGVS dbSNP
NM_003000.2(SDHB):c.423+1G>A rs398122805
NM_003000.2(SDHB):c.640C>T (p.Gln214Ter) rs876658461
NM_003000.2(SDHB):c.689G>A (p.Arg230His) rs587782604
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844

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.