ClinVar Miner

List of variants studied for Hereditary cancer-predisposing syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr) rs45476696
NM_000321.3(RB1):c.1399C>T (p.Arg467Ter) rs398123331
NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs) rs1555286570
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter) rs1354030520
NM_000321.3(RB1):c.1419del (p.Phe473fs) rs1555286573
NM_000321.3(RB1):c.1421+12_1421+32del rs587781256
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile) rs1555286575
NM_000551.4(VHL):c.407T>G (p.Phe136Cys) rs5030833

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.