ClinVar Miner

List of variants studied for Noonan syndrome 2 by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_006767.4(LZTR1):c.1785+1G>A rs145594158 0.00001
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His) rs970027059
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg) rs886041925

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