ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_002834.4(PTPN11):c.10C>G (p.Arg4Gly) rs886041517
NM_002834.4(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.4(PTPN11):c.1460A>G (p.Asp487Gly) rs730880994
NM_002834.4(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.4(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.4(PTPN11):c.166A>G (p.Ile56Val) rs397507504
NM_002834.4(PTPN11):c.209A>G (p.Lys70Arg) rs397516801
NM_002834.4(PTPN11):c.518G>C (p.Arg173Pro) rs369155025
NM_002834.4(PTPN11):c.598A>T (p.Asn200Tyr) rs727503381
NM_002834.4(PTPN11):c.766C>A (p.Gln256Lys) rs1391791847
NM_002834.4(PTPN11):c.767A>G (p.Gln256Arg) rs397507523
NM_002834.4(PTPN11):c.782T>G (p.Leu261Arg) rs765642157
NM_002834.4(PTPN11):c.794G>T (p.Arg265Leu)
NM_002834.4(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002834.4(PTPN11):c.827A>G (p.Lys276Arg) rs777603059

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