ClinVar Miner

List of variants reported as likely pathogenic for LZTR1-related schwannomatosis by Baylor Genetics

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter) rs982944299 0.00002
NM_006767.4(LZTR1):c.2407-1G>A rs200897030 0.00002
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034 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.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.516_517insT (p.Val173fs) rs1472913919 0.00001
NM_006767.4(LZTR1):c.594-2A>G rs1374011263 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.993+1G>A rs770368435 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.1113del (p.Thr372fs)
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1214del (p.Gly405fs)
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
NM_006767.4(LZTR1):c.1360G>T (p.Glu454Ter)
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
NM_006767.4(LZTR1):c.1449+2T>G
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
NM_006767.4(LZTR1):c.1510dup (p.Ala504fs)
NM_006767.4(LZTR1):c.1615+2T>C
NM_006767.4(LZTR1):c.1616-1G>A
NM_006767.4(LZTR1):c.1616-2A>G rs1328046881
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)
NM_006767.4(LZTR1):c.1753_1754del (p.Ser585fs)
NM_006767.4(LZTR1):c.1777C>T (p.Gln593Ter)
NM_006767.4(LZTR1):c.1799del (p.Asn600fs)
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
NM_006767.4(LZTR1):c.1863_1897del (p.Ser622fs)
NM_006767.4(LZTR1):c.18_30del (p.Ser6fs)
NM_006767.4(LZTR1):c.1900C>T (p.Gln634Ter)
NM_006767.4(LZTR1):c.1942+2T>C
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter) rs760312637
NM_006767.4(LZTR1):c.200+1G>C
NM_006767.4(LZTR1):c.200+1dup
NM_006767.4(LZTR1):c.200+2T>C
NM_006767.4(LZTR1):c.201-1G>A
NM_006767.4(LZTR1):c.2050_2062delinsGGCCCCCA (p.Ile684fs)
NM_006767.4(LZTR1):c.2069+1G>A
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2134G>T (p.Glu712Ter) rs1409419929
NM_006767.4(LZTR1):c.2152C>T (p.Gln718Ter) rs767482247
NM_006767.4(LZTR1):c.2189del (p.Gly730fs)
NM_006767.4(LZTR1):c.2239_2242del (p.Tyr747fs)
NM_006767.4(LZTR1):c.263+3G>C
NM_006767.4(LZTR1):c.264-1G>A
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.320+1G>C rs943939913
NM_006767.4(LZTR1):c.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.400+2T>G
NM_006767.4(LZTR1):c.401-2A>C
NM_006767.4(LZTR1):c.46del (p.Leu16fs) rs35574094
NM_006767.4(LZTR1):c.516del (p.Val173fs)
NM_006767.4(LZTR1):c.537_538del (p.Ala180fs)
NM_006767.4(LZTR1):c.637del (p.Thr213fs)
NM_006767.4(LZTR1):c.665del (p.Gly222fs)
NM_006767.4(LZTR1):c.677dup (p.Ser227fs) rs777054968
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006767.4(LZTR1):c.791+1G>T
NM_006767.4(LZTR1):c.800_801del (p.Arg267fs)
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs) rs767445373
NM_006767.4(LZTR1):c.994-1G>A
NM_006767.4(LZTR1):c.994-1G>T rs758238174
NM_006767.4(LZTR1):c.994-2A>T

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