ClinVar Miner

List of variants reported as benign for Hereditary cancer-predisposing syndrome; Cardiovascular phenotype by Ambry Genetics

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Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1785+21A>G rs178292 0.80067
NM_006767.4(LZTR1):c.994-18T>C rs112544 0.71870
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_006767.4(LZTR1):c.210G>A (p.Lys70=) rs13054014 0.26457
NM_006767.4(LZTR1):c.1683C>T (p.Arg561=) rs4822790 0.14494
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=) rs1131176 0.03087
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_001042492.3(NF1):c.3198-3C>T rs777759972 0.00502
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_006767.4(LZTR1):c.2373C>T (p.His791=) rs148993324 0.00299
NM_006767.4(LZTR1):c.401-26G>A rs72617209 0.00205
NM_006767.4(LZTR1):c.741C>T (p.Ser247=) rs114458679 0.00183
NM_006767.4(LZTR1):c.666C>T (p.Gly222=) rs35767542 0.00122
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=) rs145303406 0.00044
NM_006767.4(LZTR1):c.855C>T (p.Tyr285=) rs140612093 0.00043
NM_006767.4(LZTR1):c.1164G>A (p.Arg388=) rs200801199 0.00040
NM_006767.4(LZTR1):c.2208C>T (p.Pro736=) rs140879560 0.00039
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001042492.3(NF1):c.1062+113A>G rs868553650 0.00021
NM_006767.4(LZTR1):c.1329C>T (p.Cys443=) rs145473401 0.00016
NM_006767.4(LZTR1):c.945C>T (p.Asp315=) rs559942119 0.00016
NM_006767.4(LZTR1):c.594-3C>T rs373968693 0.00015
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_006767.4(LZTR1):c.1563C>T (p.Phe521=) rs145974096 0.00012
NM_006767.4(LZTR1):c.369C>T (p.Ala123=) rs773126123 0.00008
NM_001042492.3(NF1):c.1392+5G>T rs199999754 0.00007
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_006767.4(LZTR1):c.21G>A (p.Thr7=) rs377622689 0.00006
NM_006767.4(LZTR1):c.1416G>A (p.Arg472=) rs367740343 0.00005
NM_001042492.3(NF1):c.2991-4A>G rs754414489 0.00004
NM_001042492.3(NF1):c.3484A>G (p.Met1162Val) rs773968270 0.00004
NM_001042492.3(NF1):c.5257G>A (p.Val1753Ile) rs148540952 0.00004
NM_006767.4(LZTR1):c.1710C>T (p.Ile570=) rs779730131 0.00004
NM_006767.4(LZTR1):c.2355A>G (p.Ala785=) rs751681487 0.00004
NM_001042492.3(NF1):c.100G>A (p.Val34Ile) rs772995929 0.00003
NM_001042492.3(NF1):c.67A>G (p.Ile23Val) rs542824372 0.00003
NM_001042492.3(NF1):c.2294G>A (p.Arg765His) rs199474777 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.3362A>G (p.Glu1121Gly) rs757222815 0.00001
NM_001042492.3(NF1):c.3975-4G>A rs760207624 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.575G>A (p.Arg192Gln) rs587781670 0.00001
NM_001042492.3(NF1):c.7739-5T>C rs1156443249 0.00001
NM_001042492.3(NF1):c.8423G>C (p.Cys2808Ser) rs148473245 0.00001
NM_006767.4(LZTR1):c.450C>T (p.Asn150=) rs560328641 0.00001
NM_000267.3:c.4773-12649_4773-3del12647
NM_001042492.3(NF1):c.4836-7135A>G
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6148-17dup rs33925668
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.7381CTT[2] (p.Leu2463del) rs786203184
NM_001042492.3(NF1):c.7807G>C (p.Val2603Leu) rs766135206
NM_001042492.3(NF1):c.7870-5G>C
NM_006767.4(LZTR1):c.1901A>C (p.Gln634Pro) rs770312150
NM_006767.4(LZTR1):c.1943-27C>T
NM_006767.4(LZTR1):c.321-14_321-3del rs137977968

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