ClinVar Miner

List of variants in gene LZTR1 reported as likely pathogenic for Noonan syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00016
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00004
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1150-1G>A
NM_006767.4(LZTR1):c.1260+1G>T rs143868364
NM_006767.4(LZTR1):c.1500del (p.Ala501fs)
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.200+1G>T rs1216738448
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu) rs1165871561
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.309C>A (p.Cys103Ter)
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.510-2A>G rs1458682620
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter) rs2518617065
NM_006767.4(LZTR1):c.993+2T>C rs1924619856

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.