ClinVar Miner

List of variants reported as likely pathogenic for Hereditary leiomyomatosis and renal cell cancer

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000143.3(FH):c.1067T>A (p.Leu356Ter) rs727503927
NM_000143.3(FH):c.1394A>G (p.Tyr465Cys) rs863224010
NM_000143.3(FH):c.1469del (p.Gly490fs) rs1060499645
NM_000143.3(FH):c.554A>G (p.Gln185Arg) rs779707997
NM_000143.3(FH):c.578_583del (p.Thr193_Ala194del) rs1060499635
NM_000143.3(FH):c.698G>T (p.Arg233Leu) rs121913123
NM_000143.3(FH):c.703C>G (p.His235Asp) rs863223968
NM_000143.3(FH):c.731T>G (p.Leu244Arg) rs1060499636
NM_000143.3(FH):c.820G>C (p.Ala274Pro) rs1060499638
NM_000143.4(FH):c.224del (p.Ser75fs)

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.