ClinVar Miner

List of variants studied for benign neoplasm by Endocrinology Clinic, Seth G.S. Medical College

Included ClinVar conditions (123):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000551.4(VHL):c.293A>C (p.Tyr98Ser) rs864321643
NM_000551.4(VHL):c.479A>T (p.Glu160Val) rs864321641
NM_000551.4(VHL):c.509T>C (p.Val170Ala) rs864321642
NM_000551.4(VHL):c.548C>G (p.Ser183Trp) rs5030823
NM_000551.4(VHL):c.588dup (p.Asp197fs) rs864321640
NM_003000.3(SDHB):c.131_139del (p.Ile44_Trp47delinsArg) rs864321639
NM_003000.3(SDHB):c.227T>G (p.Leu76Ter) rs864321638
NM_003000.3(SDHB):c.251A>C (p.Asp84Ala) rs864321637
NM_003000.3(SDHB):c.338G>C (p.Cys113Ser) rs864321636
NM_003002.4(SDHD):c.386del (p.Leu129fs) rs864321644

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.