ClinVar Miner

List of variants reported as uncertain significance for endocrine gland neoplasm by Genetics and Molecular Pathology, SA Pathology

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020975.6(RET):c.1531G>A (p.Glu511Lys) rs201553718 0.00018
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_020975.6(RET):c.2556C>G (p.Ile852Met) rs377767426 0.00011
NM_001370259.2(MEN1):c.1354C>T (p.Arg452Trp) rs863224810 0.00001
NM_003001.5(SDHC):c.473T>C (p.Leu158Pro)
NM_004752.4(GCM2):c.1398G>C (p.Glu466Asp) rs537546612
NM_020975.6(RET):c.143C>T (p.Thr48Met) rs1427186016
NM_020975.6(RET):c.1921G>C (p.Ala641Pro) rs377767411
NM_024529.5(CDC73):c.69C>G (p.Asp23Glu) rs1675465120

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.