ClinVar Miner

List of variants studied for benign peripheral nerve sheath tumor

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_003073.5(SMARCB1):c.-117C>T rs11090285 0.08005
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003073.5(SMARCB1):c.-31C>T rs34276473 0.00535
NM_003073.5(SMARCB1):c.-115C>T rs551328283 0.00242
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_000268.4(NF2):c.*359G>A rs572307337 0.00217
NM_003073.5(SMARCB1):c.-184G>A rs563943196 0.00165
NM_006767.4(LZTR1):c.1904C>T (p.Pro635Leu) rs148677674 0.00077
NM_003073.5(SMARCB1):c.*159C>G rs1022324232 0.00055
NM_003073.5(SMARCB1):c.*293C>T rs754865420 0.00051
NM_003073.5(SMARCB1):c.*33T>G rs11541580 0.00034
NM_003073.5(SMARCB1):c.696G>A (p.Thr232=) rs145934279 0.00029
NM_003073.5(SMARCB1):c.*15C>A rs369400289 0.00028
NM_006767.4(LZTR1):c.1939A>G (p.Ile647Val) rs148916790 0.00025
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00021
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_006767.4(LZTR1):c.264-13G>A rs587777176 0.00017
NM_000268.4(NF2):c.114+20G>T rs746868503 0.00016
NM_006767.4(LZTR1):c.1517C>T (p.Pro506Leu) rs763950976 0.00016
NM_006767.4(LZTR1):c.2407-18G>A rs542841506 0.00014
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met) rs200806641 0.00014
NM_003073.5(SMARCB1):c.-148T>C rs886057283 0.00010
NM_006767.4(LZTR1):c.410C>A (p.Thr137Asn) rs146627447 0.00010
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_003073.5(SMARCB1):c.*17C>T rs372348692 0.00009
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_006767.4(LZTR1):c.2428C>T (p.Arg810Trp) rs776893978 0.00009
NM_003073.5(SMARCB1):c.*113C>T rs886057286 0.00008
NM_006767.4(LZTR1):c.1303C>T (p.Arg435Trp) rs369722558 0.00008
NM_006767.4(LZTR1):c.1711G>A (p.Glu571Lys) rs5761750 0.00008
NM_006767.4(LZTR1):c.2023G>A (p.Gly675Arg) rs369362070 0.00008
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_003073.5(SMARCB1):c.-17C>T rs372777519 0.00006
NM_006767.4(LZTR1):c.1354A>G (p.Lys452Glu) rs200296313 0.00006
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.1852G>A (p.Glu618Lys) rs766345180 0.00006
NM_006767.4(LZTR1):c.2062C>T (p.Arg688Cys) rs587777178 0.00006
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp) rs751516987 0.00006
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly) rs777443417 0.00005
NM_000268.4(NF2):c.1619A>G (p.Asn540Ser) rs774824164 0.00004
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_006767.4(LZTR1):c.1019G>A (p.Arg340Gln) rs368589786 0.00004
NM_006767.4(LZTR1):c.1183G>A (p.Val395Ile) rs373591504 0.00004
NM_006767.4(LZTR1):c.1195G>A (p.Ala399Thr) rs778238285 0.00004
NM_006767.4(LZTR1):c.1514G>A (p.Arg505Gln) rs201773172 0.00004
NM_006767.4(LZTR1):c.1942+3A>G rs763690028 0.00004
NM_006767.4(LZTR1):c.1943-1G>A rs1189015572 0.00004
NM_006767.4(LZTR1):c.2032C>T (p.Arg678Trp) rs780217270 0.00004
NM_006767.4(LZTR1):c.2317G>A (p.Val773Met) rs199586863 0.00004
NM_006767.4(LZTR1):c.23G>C (p.Gly8Ala) rs764439278 0.00004
NM_006767.4(LZTR1):c.824G>A (p.Arg275Gln) rs778001313 0.00004
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00004
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) rs187488637 0.00003
NM_006767.4(LZTR1):c.1610G>A (p.Arg537Gln) rs769150226 0.00003
NM_006767.4(LZTR1):c.506G>A (p.Gly169Glu) rs751873839 0.00003
NM_006767.4(LZTR1):c.508C>T (p.Arg170Trp) rs757502214 0.00003
NM_006767.4(LZTR1):c.667G>A (p.Glu223Lys) rs369204535 0.00003
NM_006767.4(LZTR1):c.788A>G (p.Lys263Arg) rs144573377 0.00003
NM_006767.4(LZTR1):c.989G>T (p.Ser330Ile) rs376331457 0.00003
NM_000268.4(NF2):c.1447-11C>T rs571246532 0.00002
NM_000268.4(NF2):c.515G>A (p.Arg172Lys) rs752963731 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_003073.5(SMARCB1):c.-149C>T rs886057282 0.00002
NM_003073.5(SMARCB1):c.309C>T (p.Asn103=) rs145695677 0.00002
NM_003073.5(SMARCB1):c.607G>A (p.Ala203Thr) rs762962010 0.00002
NM_006767.4(LZTR1):c.1175C>T (p.Ala392Val) rs767354230 0.00002
NM_006767.4(LZTR1):c.1384A>G (p.Ile462Val) rs751597202 0.00002
NM_006767.4(LZTR1):c.1540C>T (p.Arg514Trp) rs779673877 0.00002
NM_006767.4(LZTR1):c.1759G>A (p.Ala587Thr) rs1305693117 0.00002
NM_006767.4(LZTR1):c.1794C>A (p.Cys598Ter) rs982944299 0.00002
NM_006767.4(LZTR1):c.2063G>A (p.Arg688His) rs535779363 0.00002
NM_006767.4(LZTR1):c.2191G>A (p.Glu731Lys) rs377445349 0.00002
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp) rs141161152 0.00002
NM_006767.4(LZTR1):c.2326-6T>C rs199965510 0.00002
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu) rs756852884 0.00002
NM_006767.4(LZTR1):c.353G>A (p.Arg118His) rs769001939 0.00002
NM_000268.4(NF2):c.1232G>A (p.Arg411His) rs201214090 0.00001
NM_000268.4(NF2):c.1701C>G (p.Asp567Glu) rs1049732514 0.00001
NM_000268.4(NF2):c.674G>A (p.Arg225Gln) rs543087642 0.00001
NM_001042492.3(NF1):c.574C>T (p.Arg192Ter) rs397514641 0.00001
NM_003073.5(SMARCB1):c.*279G>A rs886057287 0.00001
NM_003073.5(SMARCB1):c.-83C>T rs1374186002 0.00001
NM_006767.4(LZTR1):c.-38T>A rs1459786357 0.00001
NM_006767.4(LZTR1):c.1001G>C (p.Gly334Ala) rs777494767 0.00001
NM_006767.4(LZTR1):c.1104C>G (p.Asp368Glu) rs1271934002 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.1261-2A>G rs759240190 0.00001
NM_006767.4(LZTR1):c.1304G>A (p.Arg435Gln) rs1157807812 0.00001
NM_006767.4(LZTR1):c.1330G>A (p.Asp444Asn) rs775051211 0.00001
NM_006767.4(LZTR1):c.1365C>T (p.Cys455=) rs1386837360 0.00001
NM_006767.4(LZTR1):c.1615G>A (p.Gly539Ser) rs1232362523 0.00001
NM_006767.4(LZTR1):c.1717T>C (p.Ser573Pro) rs1269824662 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.1856G>A (p.Arg619His) rs568213908 0.00001
NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln) rs781776791 0.00001
NM_006767.4(LZTR1):c.1894A>C (p.Lys632Gln) rs1353029152 0.00001
NM_006767.4(LZTR1):c.1912C>T (p.Arg638Cys) rs1213535694 0.00001
NM_006767.4(LZTR1):c.1982G>A (p.Gly661Glu) rs750582696 0.00001
NM_006767.4(LZTR1):c.2002G>T (p.Asp668Tyr) rs776005012 0.00001
NM_006767.4(LZTR1):c.2075T>C (p.Phe692Ser) rs766752047 0.00001
NM_006767.4(LZTR1):c.2101C>T (p.Pro701Ser) rs1215936951 0.00001
NM_006767.4(LZTR1):c.2220-17C>A rs1249726034 0.00001
NM_006767.4(LZTR1):c.2246A>G (p.Tyr749Cys) rs755260815 0.00001
NM_006767.4(LZTR1):c.2296A>G (p.Met766Val) rs766793703 0.00001
NM_006767.4(LZTR1):c.2309T>C (p.Val770Ala) rs752880731 0.00001
NM_006767.4(LZTR1):c.2343C>G (p.Asp781Glu) rs763193690 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.2456A>C (p.Asp819Ala) rs765969026 0.00001
NM_006767.4(LZTR1):c.2471T>C (p.Leu824Pro) rs752239353 0.00001
NM_006767.4(LZTR1):c.263+1G>A rs761241914 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.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.548A>T (p.Tyr183Phe) rs538624569 0.00001
NM_006767.4(LZTR1):c.55G>C (p.Gly19Arg) rs375788038 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.784G>A (p.Asp262Asn) rs772266158 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006767.4(LZTR1):c.856G>A (p.Gly286Arg) rs773016962 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001
NM_130439.3(MXI1):c.362C>T (p.Ala121Val) rs137852604 0.00001
GRCh37/hg19 22q11.22-11.23(chr22:22893189-24177119)
NC_000022.11:g.(29668447_29671826)_(29681601_?)del
NM_000268.4(NF2):c.1192_1193del (p.Leu398fs)
NM_000268.4(NF2):c.1243A>G (p.Thr415Ala) rs776970251
NM_000268.4(NF2):c.125_126insG (p.Gly43fs) rs587776564
NM_000268.4(NF2):c.1340+1G>C
NM_000268.4(NF2):c.205_211del (p.Lys69fs) rs587776565
NM_000268.4(NF2):c.215T>C (p.Val72Ala) rs1260510937
NM_000268.4(NF2):c.285CTT[1] (p.Phe96del) rs121434260
NM_000268.4(NF2):c.363+1G>A rs1601583839
NM_000268.4(NF2):c.448-1G>A rs2146966216
NM_000268.4(NF2):c.4G>T (p.Ala2Ser) rs1601515682
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1919C>T (p.Thr640Ile) rs1555613573
NM_001042492.3(NF1):c.2182_2196delinsT (p.Val728fs) rs1597712665
NM_001042492.3(NF1):c.2252-3T>G rs1057518842
NM_001042492.3(NF1):c.2388del (p.Ala797fs) rs1555614011
NM_001042492.3(NF1):c.2619_2622dup (p.Gly875Ter) rs1597715477
NM_001042492.3(NF1):c.4235G>C (p.Arg1412Thr) rs1555618516
NM_001042492.3(NF1):c.4724+1G>A rs1555619056
NM_001042492.3(NF1):c.4875C>G (p.Tyr1625Ter) rs1555533285
NM_001042492.3(NF1):c.5813-1G>A rs1057518974
NM_001042492.3(NF1):c.6704+2del rs1555534929
NM_001042492.3(NF1):c.6858C>T (p.Asn2286=) rs2151559216
NM_001042492.3(NF1):c.7063-2A>G rs1597851255
NM_001042492.3(NF1):c.7448_7457del (p.Pro2483fs) rs1597859854
NM_001042492.3(NF1):c.7458-1G>C rs1597862012
NM_003073.4(SMARCB1):c.-207-?_*338dup1703
NM_003073.4(SMARCB1):c.987-?_*338dup510
NM_003073.5(SMARCB1):c.*100C>G rs1363655817
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003073.5(SMARCB1):c.*12_*14dup rs779825754
NM_003073.5(SMARCB1):c.*197A>C rs1306414841
NM_003073.5(SMARCB1):c.*307A>G rs2030874248
NM_003073.5(SMARCB1):c.*82C>T rs878854600
NM_003073.5(SMARCB1):c.-107A>G rs886057284
NM_003073.5(SMARCB1):c.-157G>A rs886057281
NM_003073.5(SMARCB1):c.1085AGA[2] (p.Lys364del) rs875989800
NM_003073.5(SMARCB1):c.10del (p.Met4fs)
NM_003073.5(SMARCB1):c.1118+2T>C
NM_003073.5(SMARCB1):c.1118+8T>C rs2030796889
NM_003073.5(SMARCB1):c.143C>T (p.Pro48Leu) rs387906811
NM_003073.5(SMARCB1):c.158G>T (p.Arg53Leu) rs779769475
NM_003073.5(SMARCB1):c.203_216delinsTACC (p.His68fs) rs587776679
NM_003073.5(SMARCB1):c.233-2_237del
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs) rs2145964108
NM_003073.5(SMARCB1):c.34C>T (p.Gln12Ter) rs74315513
NM_003073.5(SMARCB1):c.364G>T (p.Glu122Ter) rs1929106223
NM_003073.5(SMARCB1):c.500+883T>G rs2145980559
NM_003073.5(SMARCB1):c.500+887G>A rs2145980562
NM_003073.5(SMARCB1):c.568C>T (p.Arg190Trp) rs1601405064
NM_003073.5(SMARCB1):c.629-361_795+2103dup
NM_003073.5(SMARCB1):c.633G>A (p.Lys211=) rs1930218305
NM_003073.5(SMARCB1):c.723C>T (p.Ile241=) rs752910574
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs) rs2146010204
NM_003073.5(SMARCB1):c.92A>T (p.Glu31Val) rs267607072
NM_003073.5(SMARCB1):c.987-4G>C rs745773662
NM_006767.4(LZTR1):c.1031C>A (p.Ser344Tyr)
NM_006767.4(LZTR1):c.1033G>T (p.Glu345Ter) rs761956867
NM_006767.4(LZTR1):c.1063C>T (p.Arg355Trp)
NM_006767.4(LZTR1):c.1078A>T (p.Lys360Ter) rs751308379
NM_006767.4(LZTR1):c.1113del (p.Thr372fs)
NM_006767.4(LZTR1):c.1124A>G (p.Lys375Arg) rs2147965561
NM_006767.4(LZTR1):c.1149+1G>T
NM_006767.4(LZTR1):c.1149+3A>T rs542715642
NM_006767.4(LZTR1):c.1149G>C (p.Glu383Asp)
NM_006767.4(LZTR1):c.1204A>G (p.Ile402Val)
NM_006767.4(LZTR1):c.1229A>G (p.Asn410Ser)
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1235G>A (p.Arg412His) rs935736801
NM_006767.4(LZTR1):c.1245_1246del (p.Glu415fs)
NM_006767.4(LZTR1):c.1260+5G>C
NM_006767.4(LZTR1):c.1260G>A (p.Gln420=)
NM_006767.4(LZTR1):c.1261-1G>T
NM_006767.4(LZTR1):c.1272C>G (p.Tyr424Ter)
NM_006767.4(LZTR1):c.1289A>C (p.His430Pro)
NM_006767.4(LZTR1):c.1353+1G>T
NM_006767.4(LZTR1):c.1353G>C (p.Glu451Asp)
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.1397G>T (p.Arg466Leu) rs587777180
NM_006767.4(LZTR1):c.1412G>C (p.Arg471Pro) rs139031749
NM_006767.4(LZTR1):c.1426del (p.Gln476fs)
NM_006767.4(LZTR1):c.1449+2T>G
NM_006767.4(LZTR1):c.1461G>T (p.Gln487His)
NM_006767.4(LZTR1):c.1462G>T (p.Glu488Ter)
NM_006767.4(LZTR1):c.1466C>G (p.Ala489Gly)
NM_006767.4(LZTR1):c.1486_1487delinsTA (p.Ala496Tyr) rs2147967267
NM_006767.4(LZTR1):c.1513C>G (p.Arg505Gly) rs770974858
NM_006767.4(LZTR1):c.1513C>T (p.Arg505Trp) rs770974858
NM_006767.4(LZTR1):c.1516C>T (p.Pro506Ser)
NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs) rs1924721014
NM_006767.4(LZTR1):c.1559C>T (p.Pro520Leu) rs1569157089
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.1616-9G>A
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006767.4(LZTR1):c.1648G>A (p.Val550Met)
NM_006767.4(LZTR1):c.1663C>G (p.Leu555Val) rs956463805
NM_006767.4(LZTR1):c.1666A>G (p.Ser556Gly)
NM_006767.4(LZTR1):c.1692G>T (p.Gln564His)
NM_006767.4(LZTR1):c.1700G>A (p.Arg567His) rs372417941
NM_006767.4(LZTR1):c.1702C>T (p.Gln568Ter)
NM_006767.4(LZTR1):c.1734C>A (p.Asn578Lys)
NM_006767.4(LZTR1):c.1777C>T (p.Gln593Ter)
NM_006767.4(LZTR1):c.1785+1G>T
NM_006767.4(LZTR1):c.1802del (p.Phe601fs)
NM_006767.4(LZTR1):c.1834A>T (p.Ile612Phe)
NM_006767.4(LZTR1):c.1842del (p.Met614fs)
NM_006767.4(LZTR1):c.1846G>A (p.Glu616Lys)
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.1888C>T (p.Arg630Trp) rs750813513
NM_006767.4(LZTR1):c.1893del (p.Lys632fs)
NM_006767.4(LZTR1):c.18_30del (p.Ser6fs)
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro) rs770312150
NM_006767.4(LZTR1):c.1942G>T (p.Gly648Cys) rs1417500183
NM_006767.4(LZTR1):c.1943-7C>A
NM_006767.4(LZTR1):c.1952T>G (p.Leu651Arg)
NM_006767.4(LZTR1):c.1957C>T (p.Gln653Ter) rs760312637
NM_006767.4(LZTR1):c.1967A>G (p.Lys656Arg)
NM_006767.4(LZTR1):c.1993G>A (p.Glu665Lys)
NM_006767.4(LZTR1):c.200+1G>C
NM_006767.4(LZTR1):c.200+3A>G
NM_006767.4(LZTR1):c.2009C>T (p.Thr670Ile)
NM_006767.4(LZTR1):c.201-1G>A
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs)
NM_006767.4(LZTR1):c.202C>A (p.Arg68Ser) rs886041418
NM_006767.4(LZTR1):c.2042A>G (p.His681Arg) rs766706053
NM_006767.4(LZTR1):c.2045A>G (p.Lys682Arg)
NM_006767.4(LZTR1):c.2069+1G>A
NM_006767.4(LZTR1):c.2070-7T>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.2093C>T (p.Ser698Phe) rs760064852
NM_006767.4(LZTR1):c.2105A>G (p.Glu702Gly) rs2147969594
NM_006767.4(LZTR1):c.2122A>T (p.Ile708Phe)
NM_006767.4(LZTR1):c.212A>G (p.His71Arg)
NM_006767.4(LZTR1):c.2134G>C (p.Glu712Gln) rs1409419929
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.2220-24G>A
NM_006767.4(LZTR1):c.2239_2242del (p.Tyr747fs)
NM_006767.4(LZTR1):c.2269C>T (p.Gln757Ter)
NM_006767.4(LZTR1):c.2284C>T (p.Gln762Ter) rs1924868328
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg) rs575193991
NM_006767.4(LZTR1):c.22G>T (p.Gly8Trp) rs575193991
NM_006767.4(LZTR1):c.2316C>G (p.Asn772Lys) rs140327903
NM_006767.4(LZTR1):c.2325+1G>A
NM_006767.4(LZTR1):c.2325G>T (p.Gln775His)
NM_006767.4(LZTR1):c.2348_2351del (p.Thr783fs) rs587777179
NM_006767.4(LZTR1):c.2380C>T (p.His794Tyr)
NM_006767.4(LZTR1):c.2406G>A (p.Lys802=)
NM_006767.4(LZTR1):c.2437A>G (p.Ser813Gly) rs1311281590
NM_006767.4(LZTR1):c.2468C>T (p.Ser823Phe)
NM_006767.4(LZTR1):c.248T>C (p.Phe83Ser)
NM_006767.4(LZTR1):c.2507T>C (p.Leu836Pro)
NM_006767.4(LZTR1):c.262G>A (p.Gly88Arg)
NM_006767.4(LZTR1):c.263+3G>C
NM_006767.4(LZTR1):c.263G>T (p.Gly88Val) rs1051725799
NM_006767.4(LZTR1):c.264-1G>A
NM_006767.4(LZTR1):c.26G>A (p.Gly9Glu)
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.27dup (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.320+1G>A rs943939913
NM_006767.4(LZTR1):c.320+1del rs1569153870
NM_006767.4(LZTR1):c.320+213C>G
NM_006767.4(LZTR1):c.320+5G>A rs1555927336
NM_006767.4(LZTR1):c.352del (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.352dup (p.Arg118fs) rs1486960809
NM_006767.4(LZTR1):c.365C>G (p.Ser122Trp)
NM_006767.4(LZTR1):c.372_385del (p.Val125fs) rs1924439391
NM_006767.4(LZTR1):c.394delinsAA (p.Val132fs)
NM_006767.4(LZTR1):c.400+197G>T
NM_006767.4(LZTR1):c.400G>C (p.Gly134Arg) rs1440693988
NM_006767.4(LZTR1):c.401-1G>A
NM_006767.4(LZTR1):c.401-2A>C
NM_006767.4(LZTR1):c.401-5C>G
NM_006767.4(LZTR1):c.404G>C (p.Gly135Ala)
NM_006767.4(LZTR1):c.451G>A (p.Asp151Asn)
NM_006767.4(LZTR1):c.46del (p.Leu16fs) rs35574094
NM_006767.4(LZTR1):c.486G>A (p.Trp162Ter) rs1569154722
NM_006767.4(LZTR1):c.499A>C (p.Ile167Leu)
NM_006767.4(LZTR1):c.49G>A (p.Ala17Thr)
NM_006767.4(LZTR1):c.537_538del (p.Ala180fs)
NM_006767.4(LZTR1):c.565A>G (p.Ile189Val)
NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys) rs1870169267
NM_006767.4(LZTR1):c.583G>A (p.Gly195Ser)
NM_006767.4(LZTR1):c.604_605del (p.Met202fs)
NM_006767.4(LZTR1):c.651+1G>A
NM_006767.4(LZTR1):c.652-116A>G
NM_006767.4(LZTR1):c.671_672insG (p.Ile224fs)
NM_006767.4(LZTR1):c.672C>G (p.Ile224Met)
NM_006767.4(LZTR1):c.680C>T (p.Ser227Phe)
NM_006767.4(LZTR1):c.684C>A (p.Cys228Ter)
NM_006767.4(LZTR1):c.708C>A (p.Cys236Ter) rs2147964053
NM_006767.4(LZTR1):c.709C>T (p.Arg237Trp) rs146197956
NM_006767.4(LZTR1):c.719T>C (p.Met240Thr)
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>A rs148031742
NM_006767.4(LZTR1):c.791+1G>C rs148031742
NM_006767.4(LZTR1):c.791+1G>T
NM_006767.4(LZTR1):c.80G>C (p.Ser27Thr) rs776383010
NM_006767.4(LZTR1):c.847C>T (p.Arg283Trp) rs1346699262
NM_006767.4(LZTR1):c.890_891del (p.Tyr297fs) rs767445373
NM_006767.4(LZTR1):c.923C>T (p.Pro308Leu) rs764464803
NM_006767.4(LZTR1):c.937T>A (p.Cys313Ser)
NM_006767.4(LZTR1):c.957G>T (p.Gln319His) rs1014327605
NM_006767.4(LZTR1):c.978_985del (p.Ser327fs)
NM_006767.4(LZTR1):c.985G>A (p.Asp329Asn)
NM_006767.4(LZTR1):c.993+1G>T rs770368435
NM_006767.4(LZTR1):c.994-1G>A
NM_006767.4(LZTR1):c.994-1G>T rs758238174

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