ClinVar Miner

List of variants in gene PTPN11 reported by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

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Total variants: 14
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HGVS dbSNP
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1507G>C (p.Gly503Arg) rs397507545
NM_002834.4(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.4(PTPN11):c.1528C>G (p.Gln510Glu) rs397507549
NM_002834.4(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.184T>G (p.Tyr62Asp) rs121918460
NM_002834.4(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459
NM_002834.4(PTPN11):c.205G>A (p.Glu69Lys) rs397507511
NM_002834.4(PTPN11):c.236A>G (p.Gln79Arg) rs121918466
NM_002834.4(PTPN11):c.272A>G (p.Lys91Arg) rs869312744
NM_002834.4(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002834.4(PTPN11):c.923A>G (p.Asn308Ser) rs121918455

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