ClinVar Miner

List of variants in gene LZTR1 reported as uncertain significance for Noonan syndrome and Noonan-related syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
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.2130C>T (p.Ile710=) rs149449207 0.00009
NM_006767.4(LZTR1):c.2023G>A (p.Gly675Arg) rs369362070 0.00008
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.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.1145C>T (p.Ser382Leu) rs762889850
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.759C>A (p.Asn253Lys) rs2147964108
NM_006767.4(LZTR1):c.888C>T (p.Leu296=) rs772839774

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