ClinVar Miner

List of variants reported as pathogenic for Noonan syndrome 2; LZTR1-related schwannomatosis; Noonan syndrome 10 by Fulgent Genetics, Fulgent Genetics

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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.1576C>T (p.Gln526Ter) rs768530578 0.00002
NM_006767.4(LZTR1):c.1149+1G>A rs767191322
NM_006767.4(LZTR1):c.1373dup (p.His459fs) rs1924703709
NM_006767.4(LZTR1):c.27del (p.Gln10fs) rs587777613

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