ClinVar Miner

List of variants in gene LZTR1 reported as likely pathogenic for Noonan syndrome 2

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.2387T>C (p.Ile796Thr) rs141672122 0.00005
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207 0.00001
NM_006767.4(LZTR1):c.2407-2A>G rs1158550690 0.00001
NM_006767.4(LZTR1):c.347C>G (p.Ala116Gly) rs1215353050 0.00001
NM_006767.4(LZTR1):c.510-2A>G rs1458682620 0.00001
NM_006767.4(LZTR1):c.1030del (p.Ser344fs) rs1555928249
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.2076T>A (p.Phe692Leu)
NM_006767.4(LZTR1):c.438dup (p.Lys147fs) rs2147961992
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925
NM_006767.4(LZTR1):c.844C>T (p.Gln282Ter)
NM_006767.4(LZTR1):c.993+2T>C

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