ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome 10

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter) rs150419186 0.00010
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter) rs189150283 0.00007
NM_006767.4(LZTR1):c.1018C>T (p.Arg340Ter) rs149850248 0.00005
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln) rs1223430276 0.00001
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys) rs797045165 0.00001
NM_006767.4(LZTR1):c.1785+1G>C rs145594158
NM_006767.4(LZTR1):c.2501_2502del (p.Ala834fs) rs2147971083
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn) rs797045166
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686

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