ClinVar Miner

List of variants in gene combination LOC130067016, LZTR1 reported as pathogenic for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.111_115del (p.Ser37fs)
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter) rs762434811
NM_006767.4(LZTR1):c.120C>G (p.Tyr40Ter) rs2518607851
NM_006767.4(LZTR1):c.19_21delinsCC (p.Thr7fs) rs2518607571
NM_006767.4(LZTR1):c.19del (p.Thr7fs) rs2518607568
NM_006767.4(LZTR1):c.1A>G (p.Met1Val) rs1569152752
NM_006767.4(LZTR1):c.20_21delinsA (p.Thr7fs)
NM_006767.4(LZTR1):c.20del (p.Thr7fs) rs1924223700
NM_006767.4(LZTR1):c.25_26delinsA (p.Gly9fs) rs2518607615
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.37del (p.Ala13fs)
NM_006767.4(LZTR1):c.3G>A (p.Met1Ile) rs1214659869
NM_006767.4(LZTR1):c.42_44delinsCG (p.Leu16fs) rs2518607665
NM_006767.4(LZTR1):c.5_11dup (p.Gly5fs) rs2518607537
NM_006767.4(LZTR1):c.77del (p.Pro26fs) rs2518607763

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.