ClinVar Miner

List of variants reported as pathogenic for LZTR1-related schwannomatosis

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Total variants: 35
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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.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.1311G>A (p.Trp437Ter) rs770933647 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.365C>T (p.Ser122Leu) rs587777177 0.00001
NM_006767.4(LZTR1):c.401-2_401-1del rs769200796 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.3:c.(?_-1)_(*1_?)del
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1149+1G>T
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006767.4(LZTR1):c.1893del (p.Lys632fs)
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
NM_006767.4(LZTR1):c.2325+1G>A
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.238dup (p.Ile80fs)
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.320+1del rs1569153870
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.401-1G>A
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter) rs1569154722
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.791+1G>A rs148031742
NM_006767.4(LZTR1):c.791+1G>C rs148031742
NM_006767.4(LZTR1):c.842del (p.Pro281fs) rs1419091884
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
NM_006767.4(LZTR1):c.993+1G>T rs770368435

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