ClinVar Miner

List of variants in gene PTPN11 reported as likely pathogenic by GeneDx

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1282G>A (p.Val428Met) rs397507536 0.00003
NM_002834.5(PTPN11):c.794G>T (p.Arg265Leu) rs376607329 0.00003
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.138-2A>G
NM_002834.5(PTPN11):c.1402A>G (p.Thr468Ala) rs397507537
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.330A>C (p.Glu110Asp) rs1566167244
NM_002834.5(PTPN11):c.502A>G (p.Thr168Ala) rs2038105901
NM_002834.5(PTPN11):c.518G>C (p.Arg173Pro) rs369155025
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.766C>A (p.Gln256Lys) rs1391791847
NM_002834.5(PTPN11):c.774G>T (p.Glu258Asp) rs397516809
NM_002834.5(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr) rs121918463
NM_002834.5(PTPN11):c.854T>G (p.Phe285Cys) rs121918463

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