ClinVar Miner

List of variants in gene LZTR1 reported as likely pathogenic for Noonan syndrome and Noonan-related syndrome

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Total variants: 5
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HGVS dbSNP gnomAD frequency
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.1925del (p.Asp642fs) rs2147968505
NM_006767.4(LZTR1):c.2350C>T (p.Gln784Ter) rs1489766065
NM_006767.4(LZTR1):c.2405del (p.Lys802fs) rs1601723893

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