ClinVar Miner

List of variants reported as likely pathogenic for Noonan syndrome 1

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Total variants: 4
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HGVS dbSNP
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.794G>A (p.Arg265Gln) rs376607329
NM_002834.4(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456

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