ClinVar Miner

List of variants studied for Noonan syndrome 2 by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.2044A>G (p.Lys682Glu) rs758472207 0.00001
NM_006767.4(LZTR1):c.993+1G>A rs770368435 0.00001

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