ClinVar Miner

List of variants in gene PTPN11 reported as pathogenic for Metachondromatosis

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_002834.5(PTPN11):c.1508G>A (p.Gly503Glu) rs397507546 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386 0.00001
NC_000012.12:g.112459655_112474339delinsCA
NM_002834.5(PTPN11):c.1093-1G>T rs398122862
NM_002834.5(PTPN11):c.1315del (p.Leu439fs) rs398122860
NM_002834.5(PTPN11):c.1339del (p.Glu447fs) rs1592852978
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_002834.5(PTPN11):c.1516C>T (p.Gln506Ter) rs387907157
NM_002834.5(PTPN11):c.1530G>C (p.Gln510His) rs397507550
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp) rs397507505
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn) rs397507510
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly) rs121918461
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile) rs121918462
NM_002834.5(PTPN11):c.295A>T (p.Lys99Ter) rs387907158
NM_002834.5(PTPN11):c.329A>C (p.Glu110Ala) rs397507519
NM_002834.5(PTPN11):c.353_354del (p.Ser118fs) rs398122859
NM_002834.5(PTPN11):c.409_413del (p.Val137fs) rs398122857
NM_002834.5(PTPN11):c.412C>T (p.Arg138Ter) rs267606989
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.458_463delinsAAGAACACAGGGGAGAGCA (p.Thr153fs) rs398122858
NM_002834.5(PTPN11):c.514_524del (p.Ile172fs)
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_002834.5(PTPN11):c.643-2A>C rs398122861
NM_002834.5(PTPN11):c.661del (p.Arg220_Ile221insTer) rs397516807
NM_002834.5(PTPN11):c.802G>T (p.Gly268Cys) rs397507527

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