ClinVar Miner

List of variants in gene LZTR1 reported as uncertain significance for Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1333G>A (p.Val445Met) rs201070853 0.00024
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00021
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00010
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006767.4(LZTR1):c.1055A>C (p.Tyr352Ser) rs368649599 0.00006
NM_006767.4(LZTR1):c.1498G>C (p.Ala500Pro) rs377075596 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006767.4(LZTR1):c.1555C>T (p.Arg519Trp) rs565364639 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.1195G>A (p.Ala399Thr) rs778238285 0.00004
NM_006767.4(LZTR1):c.1403G>A (p.Arg468His) rs146427018 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met) rs531211534 0.00004
NM_006767.4(LZTR1):c.1556G>A (p.Arg519Gln) rs149502567 0.00003
NM_006767.4(LZTR1):c.2401A>C (p.Thr801Pro) rs1215965010 0.00003
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro) rs1269824662 0.00001
NM_006767.4(LZTR1):c.1907C>T (p.Pro636Leu) rs553579098 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_006767.4(LZTR1):c.2098A>G (p.Met700Val) rs755871821 0.00001
NM_006767.4(LZTR1):c.400+3A>G rs371956748 0.00001
NM_006767.4(LZTR1):c.-112A>G
NM_006767.4(LZTR1):c.1183G>C (p.Val395Leu)
NM_006767.4(LZTR1):c.1190C>T (p.Ser397Leu) rs1241079044
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1261-6T>G
NM_006767.4(LZTR1):c.1279_1284dup (p.Thr428_Leu429insCysThr)
NM_006767.4(LZTR1):c.1291G>A (p.Glu431Lys)
NM_006767.4(LZTR1):c.1341C>G (p.Phe447Leu)
NM_006767.4(LZTR1):c.1357GAG[1] (p.Glu454del)
NM_006767.4(LZTR1):c.1378G>A (p.Val460Ile)
NM_006767.4(LZTR1):c.1444G>A (p.Ala482Thr)
NM_006767.4(LZTR1):c.144C>G (p.Phe48Leu)
NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly) rs770974858
NM_006767.4(LZTR1):c.1846G>A (p.Glu616Lys)
NM_006767.4(LZTR1):c.1888C>T (p.Arg630Trp) rs750813513
NM_006767.4(LZTR1):c.1946C>T (p.Thr649Ile) rs774401447
NM_006767.4(LZTR1):c.2057C>T (p.Ala686Val)
NM_006767.4(LZTR1):c.2201T>G (p.Met734Arg)
NM_006767.4(LZTR1):c.2220-16C>T
NM_006767.4(LZTR1):c.2325G>A (p.Gln775=) rs377557832
NM_006767.4(LZTR1):c.2453T>C (p.Leu818Pro)
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val) rs1051725799
NM_006767.4(LZTR1):c.400+6C>T
NM_006767.4(LZTR1):c.401-5C>G
NM_006767.4(LZTR1):c.467A>G (p.Lys156Arg)
NM_006767.4(LZTR1):c.484T>C (p.Trp162Arg)
NM_006767.4(LZTR1):c.510-6C>G
NM_006767.4(LZTR1):c.551G>A (p.Ser184Asn)
NM_006767.4(LZTR1):c.593+5G>A
NM_006767.4(LZTR1):c.938G>A (p.Cys313Tyr)

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.