ClinVar Miner

List of variants reported as likely pathogenic for benign peripheral nerve sheath tumor

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
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.353G>A (p.Arg118His) rs769001939 0.00002
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.115G>T (p.Glu39Ter) rs762434811 0.00001
NM_006767.4(LZTR1):c.1260+1G>A rs143868364 0.00001
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=) rs1386837360 0.00001
NM_006767.4(LZTR1):c.1733_1734del (p.Asn578fs) rs1460026299 0.00001
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 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.509G>A (p.Arg170Gln) rs781431741 0.00001
NM_006767.4(LZTR1):c.529del (p.Ala177fs) rs558510095 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_000268.4(NF2):c.1192_1193del (p.Leu398fs)
NM_000268.4(NF2):c.1340+1G>C
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.6858C>T (p.Asn2286=) rs2151559216
NM_003073.5(SMARCB1):c.10del (p.Met4fs)
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter) rs761956867
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter) rs751308379
NM_006767.4(LZTR1):c.1113del (p.Thr372fs)
NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
NM_006767.4(LZTR1):c.1353+1G>T
NM_006767.4(LZTR1):c.1354-2A>G
NM_006767.4(LZTR1):c.1365C>A (p.Cys455Ter)
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
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.1556_1560dup (p.Phe521fs) rs1924721014
NM_006767.4(LZTR1):c.1615+2T>C
NM_006767.4(LZTR1):c.1616-1G>A
NM_006767.4(LZTR1):c.1616-2_1616-1delinsCC
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)
NM_006767.4(LZTR1):c.1777C>T (p.Gln593Ter)
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
NM_006767.4(LZTR1):c.184del (p.Glu62fs)
NM_006767.4(LZTR1):c.1863_1897del (p.Ser622fs)
NM_006767.4(LZTR1):c.1876_1883dup (p.Ile628fs)
NM_006767.4(LZTR1):c.18_30del (p.Ser6fs)
NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys) rs1417500183
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter) rs760312637
NM_006767.4(LZTR1):c.200+1G>C
NM_006767.4(LZTR1):c.201-1G>A
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.2069+1G>A
NM_006767.4(LZTR1):c.2073C>G (p.Tyr691Ter)
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
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.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.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.372_385del (p.Val125fs) rs1924439391
NM_006767.4(LZTR1):c.394delinsAA (p.Val132fs)
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg) rs1440693988
NM_006767.4(LZTR1):c.401-2A>C
NM_006767.4(LZTR1):c.46del (p.Leu16fs) rs35574094
NM_006767.4(LZTR1):c.537_538del (p.Ala180fs)
NM_006767.4(LZTR1):c.651+1G>A
NM_006767.4(LZTR1):c.671_672insG (p.Ile224fs)
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
NM_006767.4(LZTR1):c.708C>A (p.Cys236Ter) rs2147964053
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006767.4(LZTR1):c.774del (p.Phe258fs) rs780267761
NM_006767.4(LZTR1):c.791+1G>T
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs) rs767445373
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
NM_006767.4(LZTR1):c.994-1G>A
NM_006767.4(LZTR1):c.994-1G>T rs758238174

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