ClinVar Miner

List of variants reported as pathogenic for endocrine gland neoplasm by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.817C>T (p.Arg273Cys) rs121913343 0.00001
NM_003000.3(SDHB):c.268C>T (p.Arg90Ter) rs74315366 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_000546.6(TP53):c.716del (p.Asn239fs) rs1060501197
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.919+1G>A rs1131691039
NM_000546.6(TP53):c.994-1G>A rs587782272
NM_001370259.2(MEN1):c.1351-2A>C rs1060499986
NM_003001.5(SDHC):c.49del (p.His17fs)
NM_004482.4(GALNT3):c.1524+1G>A rs745655924
NM_017849.4(TMEM127):c.115_116del (p.Leu39fs)

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.