ClinVar Miner

List of variants in gene LZTR1 reported as pathogenic by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 153
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.372C>T (p.Val124=) rs371891909 0.00006
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.1768C>T (p.Gln590Ter) rs754685052 0.00004
NM_006767.4(LZTR1):c.1576C>T (p.Gln526Ter) rs768530578 0.00002
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter) rs982944299 0.00002
NM_006767.4(LZTR1):c.353G>A (p.Arg118His) rs769001939 0.00002
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter) rs1924657431 0.00001
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 0.00001
NM_006767.4(LZTR1):c.1729C>T (p.Gln577Ter) rs1390034681 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 0.00001
NM_006767.4(LZTR1):c.465C>G (p.Tyr155Ter) rs753295968 0.00001
NM_006767.4(LZTR1):c.482del (p.Gln161fs) rs1924462309 0.00001
NM_006767.4(LZTR1):c.485G>A (p.Trp162Ter) rs1458120855 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.529del (p.Ala177fs) rs558510095 0.00001
NM_006767.4(LZTR1):c.658C>T (p.Gln220Ter) rs749437251 0.00001
NM_006767.4(LZTR1):c.671dup (p.Ser227fs) rs1351226319 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NC_000022.11:g.20988013del rs774779041
NM_006767.4(LZTR1):c.1032del (p.Glu345fs)
NM_006767.4(LZTR1):c.1048del (p.Thr349_Leu350insTer)
NM_006767.4(LZTR1):c.1135C>T (p.Gln379Ter)
NM_006767.4(LZTR1):c.1171del (p.His391fs)
NM_006767.4(LZTR1):c.1214del (p.Gly405fs)
NM_006767.4(LZTR1):c.1226del (p.Asn409fs)
NM_006767.4(LZTR1):c.1243G>T (p.Glu415Ter)
NM_006767.4(LZTR1):c.1251dup (p.Arg418fs) rs2147966059
NM_006767.4(LZTR1):c.1258C>T (p.Gln420Ter) rs2147966067
NM_006767.4(LZTR1):c.1266_1267del (p.Cys423fs)
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
NM_006767.4(LZTR1):c.1273_1279delinsTAAGG (p.Pro425_Cys427delinsTer)
NM_006767.4(LZTR1):c.1283del (p.Thr428fs)
NM_006767.4(LZTR1):c.1291G>T (p.Glu431Ter)
NM_006767.4(LZTR1):c.1310G>A (p.Trp437Ter) rs746949078
NM_006767.4(LZTR1):c.1312G>T (p.Glu438Ter)
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)
NM_006767.4(LZTR1):c.1406G>A (p.Trp469Ter)
NM_006767.4(LZTR1):c.1426C>T (p.Gln476Ter)
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
NM_006767.4(LZTR1):c.1447C>T (p.Gln483Ter) rs752547717
NM_006767.4(LZTR1):c.1449+1G>A
NM_006767.4(LZTR1):c.1456_1468del (p.Glu486fs)
NM_006767.4(LZTR1):c.1459C>T (p.Gln487Ter)
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
NM_006767.4(LZTR1):c.1480del (p.Arg494fs)
NM_006767.4(LZTR1):c.1491del (p.Gly498fs)
NM_006767.4(LZTR1):c.1531del (p.Val511fs) rs771982640
NM_006767.4(LZTR1):c.1602del (p.Lys534fs) rs1268674934
NM_006767.4(LZTR1):c.1605C>A (p.Tyr535Ter) rs753347937
NM_006767.4(LZTR1):c.1611del (p.Gly539fs)
NM_006767.4(LZTR1):c.1612A>T (p.Lys538Ter)
NM_006767.4(LZTR1):c.161G>A (p.Trp54Ter)
NM_006767.4(LZTR1):c.1653C>G (p.Tyr551Ter)
NM_006767.4(LZTR1):c.165_181dup (p.Asp61fs)
NM_006767.4(LZTR1):c.1672C>T (p.Gln558Ter)
NM_006767.4(LZTR1):c.1690C>T (p.Gln564Ter)
NM_006767.4(LZTR1):c.1698C>A (p.Cys566Ter)
NM_006767.4(LZTR1):c.1726del (p.Leu576fs)
NM_006767.4(LZTR1):c.1733del (p.Asn578fs)
NM_006767.4(LZTR1):c.1807del (p.Val602_Val603insTer)
NM_006767.4(LZTR1):c.180C>A (p.Cys60Ter) rs766446110
NM_006767.4(LZTR1):c.1828C>T (p.Gln610Ter) rs2147968331
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
NM_006767.4(LZTR1):c.1864_1868del (p.Ser622fs)
NM_006767.4(LZTR1):c.1874_1890del (p.Ile625fs)
NM_006767.4(LZTR1):c.1896del (p.Lys632fs)
NM_006767.4(LZTR1):c.1897C>T (p.Gln633Ter)
NM_006767.4(LZTR1):c.1909_1910del (p.Pro637fs)
NM_006767.4(LZTR1):c.193_195delinsA (p.Gly65fs)
NM_006767.4(LZTR1):c.1950_1961delinsG (p.Leu651fs)
NM_006767.4(LZTR1):c.1974C>G (p.Tyr658Ter) rs939793375
NM_006767.4(LZTR1):c.1978G>T (p.Glu660Ter)
NM_006767.4(LZTR1):c.2001_2002del (p.Cys667_Asp668delinsTer)
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.2013_2014del (p.Leu672fs)
NM_006767.4(LZTR1):c.2059_2060insT (p.Ala687fs)
NM_006767.4(LZTR1):c.2073C>A (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2083_2084del (p.Met695fs)
NM_006767.4(LZTR1):c.2089del (p.Arg697fs) rs2147969560
NM_006767.4(LZTR1):c.2104G>T (p.Glu702Ter)
NM_006767.4(LZTR1):c.214dup (p.Thr72fs)
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter) rs767482247
NM_006767.4(LZTR1):c.215_216del (p.Thr72fs)
NM_006767.4(LZTR1):c.2178C>A (p.Tyr726Ter) rs1034395178
NM_006767.4(LZTR1):c.2178C>G (p.Tyr726Ter)
NM_006767.4(LZTR1):c.2178_2179dup (p.Ile727fs)
NM_006767.4(LZTR1):c.2186dup (p.Tyr729Ter)
NM_006767.4(LZTR1):c.2193_2194delinsA (p.Val732fs)
NM_006767.4(LZTR1):c.2216C>A (p.Ser739Ter)
NM_006767.4(LZTR1):c.2223C>A (p.Tyr741Ter)
NM_006767.4(LZTR1):c.2229del (p.Phe743fs) rs1924863769
NM_006767.4(LZTR1):c.2238del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2247C>A (p.Tyr749Ter) rs779077819
NM_006767.4(LZTR1):c.2256C>A (p.Tyr752Ter)
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
NM_006767.4(LZTR1):c.2302del (p.Asn767_Val768insTer) rs1924869044
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs) rs1231204217
NM_006767.4(LZTR1):c.2323C>T (p.Gln775Ter)
NM_006767.4(LZTR1):c.238dup (p.Ile80fs)
NM_006767.4(LZTR1):c.301A>T (p.Lys101Ter)
NM_006767.4(LZTR1):c.314G>A (p.Trp105Ter)
NM_006767.4(LZTR1):c.321-2del
NM_006767.4(LZTR1):c.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.365C>A (p.Ser122Ter) rs587777177
NM_006767.4(LZTR1):c.423T>G (p.Tyr141Ter)
NM_006767.4(LZTR1):c.439A>T (p.Lys147Ter)
NM_006767.4(LZTR1):c.458_459del (p.Leu152_Phe153insTer) rs1924461126
NM_006767.4(LZTR1):c.481C>T (p.Gln161Ter) rs2147962049
NM_006767.4(LZTR1):c.496A>T (p.Lys166Ter)
NM_006767.4(LZTR1):c.509+1G>A
NM_006767.4(LZTR1):c.519del (p.Ala174fs)
NM_006767.4(LZTR1):c.549C>G (p.Tyr183Ter)
NM_006767.4(LZTR1):c.549_550del (p.Tyr183_Ser184delinsTer)
NM_006767.4(LZTR1):c.570del (p.Phe190fs)
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
NM_006767.4(LZTR1):c.607del (p.Trp203fs)
NM_006767.4(LZTR1):c.610del (p.Thr204fs)
NM_006767.4(LZTR1):c.622C>T (p.Gln208Ter)
NM_006767.4(LZTR1):c.628dup (p.Arg210fs) rs1457594219
NM_006767.4(LZTR1):c.645G>A (p.Trp215Ter)
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.677del (p.Pro226fs)
NM_006767.4(LZTR1):c.677dup (p.Ser227fs) rs777054968
NM_006767.4(LZTR1):c.682del (p.Cys228fs)
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
NM_006767.4(LZTR1):c.696del (p.Val233fs)
NM_006767.4(LZTR1):c.735dup (p.Gln246fs)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.751del (p.Lys250_Ile251insTer)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006767.4(LZTR1):c.787_788del (p.Lys263fs)
NM_006767.4(LZTR1):c.794G>A (p.Trp265Ter)
NM_006767.4(LZTR1):c.834_840dup (p.Pro281fs)
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs) rs767445373
NM_006767.4(LZTR1):c.891T>A (p.Tyr297Ter)
NM_006767.4(LZTR1):c.897dup (p.Gly300fs)
NM_006767.4(LZTR1):c.946del (p.Val316fs)
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_006767.4(LZTR1):c.963G>A (p.Trp321Ter)
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
NM_006767.4(LZTR1):c.985del (p.Asp329fs)
NM_006767.4(LZTR1):c.987_988dup (p.Ser330fs)
NM_006767.4(LZTR1):c.991G>T (p.Glu331Ter)
NM_006767.4(LZTR1):c.993+1G>T rs770368435

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