ClinVar Miner

List of variants studied for Noonan syndrome 10 by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1412G>A (p.Arg471His) rs139031749 0.00018
NM_006767.4(LZTR1):c.2306C>T (p.Thr769Met) rs531211534 0.00010
NM_006767.4(LZTR1):c.1855C>T (p.Arg619Cys) rs373488966 0.00007
NM_006767.4(LZTR1):c.373G>A (p.Val125Ile) rs775434314 0.00007
NM_006767.4(LZTR1):c.1396C>T (p.Arg466Trp) rs550922200 0.00006
NM_006767.4(LZTR1):c.1852G>A (p.Glu618Lys) rs766345180 0.00006
NM_006767.4(LZTR1):c.2089C>T (p.Arg697Trp) rs751516987 0.00006
NM_006767.4(LZTR1):c.946G>A (p.Val316Met) rs370315661 0.00006
NM_006767.4(LZTR1):c.710G>A (p.Arg237Gln) rs773696598 0.00005
NM_006767.4(LZTR1):c.988A>G (p.Ser330Gly) rs777443417 0.00005
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00004
NM_006767.4(LZTR1):c.1141G>C (p.Ala381Pro) rs1224523480 0.00002
NM_006767.4(LZTR1):c.2263C>T (p.Arg755Trp) rs141161152 0.00002
NM_006767.4(LZTR1):c.1354-5T>A rs368421766 0.00001
NM_006767.4(LZTR1):c.1689G>A (p.Glu563=) rs977829129 0.00001
NM_006767.4(LZTR1):c.1750G>A (p.Glu584Lys) rs369697241 0.00001
NM_006767.4(LZTR1):c.2220-14T>C rs763822752 0.00001
NC_000022.10:g.(?_21336586)_(21353321_?)del
NM_006767.4(LZTR1):c.1215C>T (p.Gly405=)
NM_006767.4(LZTR1):c.1685_1702dup (p.Arg567_Gln568insLeuGluGlnLeuCysArg) rs1924752851
NM_006767.4(LZTR1):c.2011_2012del (p.Leu671fs) rs772226479
NM_006767.4(LZTR1):c.2090G>A (p.Arg697Gln) rs370638947
NM_006767.4(LZTR1):c.22G>C (p.Gly8Arg) rs575193991
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_006767.4(LZTR1):c.507A>T (p.Gly169=)
NM_006767.4(LZTR1):c.808A>G (p.Thr270Ala) rs2518616941

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