ClinVar Miner

List of variants in gene LZTR1 reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.842C>T (p.Pro281Leu) rs1390048261 0.00003
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter) rs982944299 0.00002
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1251C>G (p.Tyr417Ter) rs1924657431 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 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.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.401-2A>G rs1222197005 0.00001
NM_006767.4(LZTR1):c.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.651+1G>T rs1450044732 0.00001
NM_006767.4(LZTR1):c.955C>T (p.Gln319Ter) rs1924617179 0.00001
NM_006767.4(LZTR1):c.1005_1012del (p.Glu336fs) rs753474547
NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter) rs761956867
NM_006767.4(LZTR1):c.1243G>T (p.Glu415Ter)
NM_006767.4(LZTR1):c.1250A>C (p.Tyr417Ser) rs1057524046
NM_006767.4(LZTR1):c.1317_1323dup (p.Phe442fs) rs1131691862
NM_006767.4(LZTR1):c.1339T>G (p.Phe447Val) rs1312334046
NM_006767.4(LZTR1):c.1449+1G>A
NM_006767.4(LZTR1):c.150_151del (p.Val51fs) rs1194536394
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)
NM_006767.4(LZTR1):c.1866_1867dup (p.Pro623fs) rs1601722136
NM_006767.4(LZTR1):c.2070-2A>G rs774954465
NM_006767.4(LZTR1):c.2264G>T (p.Arg755Leu) rs762834512
NM_006767.4(LZTR1):c.2303dup (p.Thr769fs) rs1231204217
NM_006767.4(LZTR1):c.2347dup (p.Thr783fs)
NM_006767.4(LZTR1):c.2404_2405delinsTTGG (p.Lys802fs) rs1601723893
NM_006767.4(LZTR1):c.2443C>T (p.Gln815Ter)
NM_006767.4(LZTR1):c.264-2A>C
NM_006767.4(LZTR1):c.272T>C (p.Met91Thr) rs1555927321
NM_006767.4(LZTR1):c.347C>T (p.Ala116Val)
NM_006767.4(LZTR1):c.348_349insT (p.Pro117fs) rs1555927544
NM_006767.4(LZTR1):c.431C>A (p.Ser144Tyr) rs771885420
NM_006767.4(LZTR1):c.436T>A (p.Leu146Met) rs1555927611
NM_006767.4(LZTR1):c.438del (p.Lys147fs) rs1555927613
NM_006767.4(LZTR1):c.509+1G>T rs886041542
NM_006767.4(LZTR1):c.542dup (p.Val182fs) rs1601717797
NM_006767.4(LZTR1):c.597G>C (p.Leu199Phe) rs1555927827
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
NM_006767.4(LZTR1):c.649G>T (p.Glu217Ter) rs1302923931
NM_006767.4(LZTR1):c.651+5G>A rs766055427
NM_006767.4(LZTR1):c.677del (p.Pro226fs)
NM_006767.4(LZTR1):c.685T>G (p.Cys229Gly) rs886041925
NM_006767.4(LZTR1):c.737A>C (p.Gln246Pro) rs1057518336
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006767.4(LZTR1):c.794G>A (p.Trp265Ter)
NM_006767.4(LZTR1):c.955del (p.Gln319fs) rs1386054181
NM_006767.4(LZTR1):c.967_980del (p.Val323fs)
NM_006767.4(LZTR1):c.994-1G>T rs758238174

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