ClinVar Miner

List of variants in gene LZTR1 studied for Noonan syndrome and Noonan-related syndrome

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=) rs1131176 0.03087
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_006767.4(LZTR1):c.201-8C>T rs183476594 0.00520
NM_006767.4(LZTR1):c.2007C>T (p.Ile669=) rs138664443 0.00386
NM_006767.4(LZTR1):c.2373C>T (p.His791=) rs148993324 0.00299
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00222
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_006767.4(LZTR1):c.453C>T (p.Asp151=) rs142421078 0.00069
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00065
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=) rs145303406 0.00044
NM_006767.4(LZTR1):c.2511C>T (p.Gly837=) rs202072955 0.00036
NM_006767.4(LZTR1):c.488C>T (p.Thr163Met) rs200806641 0.00014
NM_006767.4(LZTR1):c.351C>T (p.Pro117=) rs202066345 0.00012
NM_006767.4(LZTR1):c.263+7G>A rs185749722 0.00010
NM_006767.4(LZTR1):c.2130C>T (p.Ile710=) rs149449207 0.00009
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_006767.4(LZTR1):c.1397G>A (p.Arg466Gln) rs587777180 0.00006
NM_006767.4(LZTR1):c.1402C>T (p.Arg468Cys) rs374741798 0.00003
NM_006767.4(LZTR1):c.2394C>T (p.His798=) rs770445427 0.00003
NM_006767.4(LZTR1):c.2026C>A (p.His676Asn) rs756293448 0.00002
NM_006767.4(LZTR1):c.2173C>T (p.Arg725Cys) rs778626874 0.00002
NM_006767.4(LZTR1):c.344C>T (p.Pro115Leu) rs756852884 0.00002
NM_006767.4(LZTR1):c.905C>T (p.Ala302Val) rs765881289 0.00002
NM_006767.4(LZTR1):c.1283C>T (p.Thr428Met) rs1253225013 0.00001
NM_006767.4(LZTR1):c.450C>T (p.Asn150=) rs560328641 0.00001
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.1145C>T (p.Ser382Leu) rs762889850
NM_006767.4(LZTR1):c.1234C>T (p.Arg412Cys) rs747430075
NM_006767.4(LZTR1):c.1428G>A (p.Gln476=) rs2147967090
NM_006767.4(LZTR1):c.1485G>A (p.Glu495=) rs1265536815
NM_006767.4(LZTR1):c.1925del (p.Asp642fs) rs2147968505
NM_006767.4(LZTR1):c.2103C>T (p.Pro701=) rs139080986
NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter) rs1489766065
NM_006767.4(LZTR1):c.2405del (p.Lys802fs) rs1601723893
NM_006767.4(LZTR1):c.321-14_321-3del rs137977968
NM_006767.4(LZTR1):c.759C>A (p.Asn253Lys) rs2147964108
NM_006767.4(LZTR1):c.888C>T (p.Leu296=) rs772839774

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