ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance by GeneDx

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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.556C>T (p.Arg186Trp) rs143433437 0.00003
NM_002834.5(PTPN11):c.1162G>A (p.Val388Ile) rs749523268 0.00002
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00002
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1468G>A (p.Val490Ile) rs781083623 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.461G>C (p.Gly154Ala) rs376027245 0.00002
NM_002834.5(PTPN11):c.487G>A (p.Gly163Ser) rs730880992 0.00002
NM_002834.5(PTPN11):c.1004A>C (p.Gln335Pro) rs886041622 0.00001
NM_002834.5(PTPN11):c.115G>A (p.Gly39Arg) rs886041585 0.00001
NM_002834.5(PTPN11):c.1600-11C>G rs1472156150 0.00001
NM_002834.5(PTPN11):c.1676C>G (p.Pro559Arg) rs1253971623 0.00001
NM_002834.5(PTPN11):c.1696A>T (p.Thr566Ser) rs746712068 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.244A>G (p.Met82Val) rs397507515 0.00001
NM_002834.5(PTPN11):c.289G>C (p.Glu97Gln) rs397507516 0.00001
NM_002834.5(PTPN11):c.440T>G (p.Phe147Cys) rs1179862540 0.00001
NM_002834.5(PTPN11):c.518G>A (p.Arg173His) rs369155025 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002834.5(PTPN11):c.931A>G (p.Met311Val) rs774939392 0.00001
NM_002834.5(PTPN11):c.957C>T (p.Asn319=) rs771407775 0.00001
NM_002834.5(PTPN11):c.983T>C (p.Ile328Thr) rs369430257 0.00001
NM_002834.5(PTPN11):c.1032G>A (p.Met344Ile) rs2038533623
NM_002834.5(PTPN11):c.103A>C (p.Lys35Gln) rs934388335
NM_002834.5(PTPN11):c.1129C>G (p.Leu377Val) rs1322494804
NM_002834.5(PTPN11):c.1181A>G (p.His394Arg) rs1415532476
NM_002834.5(PTPN11):c.1189A>G (p.Thr397Ala)
NM_002834.5(PTPN11):c.1198G>A (p.Glu400Lys)
NM_002834.5(PTPN11):c.1204A>G (p.Lys402Glu)
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1361C>T (p.Pro454Leu) rs1566185599
NM_002834.5(PTPN11):c.1436T>C (p.Ile479Thr) rs1555270590
NM_002834.5(PTPN11):c.1444A>C (p.Lys482Gln)
NM_002834.5(PTPN11):c.145G>A (p.Gly49Arg) rs2135861867
NM_002834.5(PTPN11):c.1460A>G (p.Asp487Gly) rs730880994
NM_002834.5(PTPN11):c.1480A>G (p.Ile494Val) rs2135916177
NM_002834.5(PTPN11):c.1483C>A (p.Gln495Lys) rs756104635
NM_002834.5(PTPN11):c.1484A>G (p.Gln495Arg) rs2135916200
NM_002834.5(PTPN11):c.1489G>A (p.Val497Met) rs2135916214
NM_002834.5(PTPN11):c.1546A>G (p.Met516Val)
NM_002834.5(PTPN11):c.1553T>G (p.Val518Gly)
NM_002834.5(PTPN11):c.155C>T (p.Thr52Ile) rs397507503
NM_002834.5(PTPN11):c.1569A>C (p.Glu523Asp) rs1566186902
NM_002834.5(PTPN11):c.1580G>A (p.Arg527His) rs770363146
NM_002834.5(PTPN11):c.1607A>G (p.Lys536Arg)
NM_002834.5(PTPN11):c.1628C>T (p.Thr543Ile) rs1057520397
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr)
NM_002834.5(PTPN11):c.1661G>A (p.Ser554Asn) rs1555271397
NM_002834.5(PTPN11):c.1751G>A (p.Gly584Asp) rs2135930871
NM_002834.5(PTPN11):c.281A>T (p.Asp94Val) rs2135862786
NM_002834.5(PTPN11):c.28A>G (p.Asn10Asp) rs368633510
NM_002834.5(PTPN11):c.290A>T (p.Glu97Val) rs2135862855
NM_002834.5(PTPN11):c.301C>T (p.Pro101Ser)
NM_002834.5(PTPN11):c.323C>T (p.Thr108Ile)
NM_002834.5(PTPN11):c.346C>A (p.His116Asn) rs1053009990
NM_002834.5(PTPN11):c.369G>T (p.Glu123Asp) rs755619262
NM_002834.5(PTPN11):c.443T>C (p.Val148Ala)
NM_002834.5(PTPN11):c.449C>G (p.Ser150Cys)
NM_002834.5(PTPN11):c.460G>A (p.Gly154Ser) rs2135867186
NM_002834.5(PTPN11):c.488G>A (p.Gly163Asp)
NM_002834.5(PTPN11):c.502A>T (p.Thr168Ser) rs2038105901
NM_002834.5(PTPN11):c.538G>A (p.Asp180Asn)
NM_002834.5(PTPN11):c.562G>C (p.Asp188His) rs1555267939
NM_002834.5(PTPN11):c.565T>G (p.Ser189Ala) rs79068130
NM_002834.5(PTPN11):c.575A>G (p.Asp192Gly) rs2135869587
NM_002834.5(PTPN11):c.587A>G (p.His196Arg) rs2135869664
NM_002834.5(PTPN11):c.612A>T (p.Glu204Asp)
NM_002834.5(PTPN11):c.683G>T (p.Ser228Ile) rs748085966
NM_002834.5(PTPN11):c.692G>A (p.Arg231Gln)
NM_002834.5(PTPN11):c.701G>A (p.Ser234Asn) rs730881220
NM_002834.5(PTPN11):c.712G>A (p.Glu238Lys)
NM_002834.5(PTPN11):c.760C>G (p.Leu254Val)
NM_002834.5(PTPN11):c.788A>G (p.Tyr263Cys) rs763617831
NM_002834.5(PTPN11):c.865A>G (p.Arg289Gly) rs2135901005
NM_002834.5(PTPN11):c.867G>C (p.Arg289Ser)
NM_002834.5(PTPN11):c.868G>C (p.Val290Leu)
NM_002834.5(PTPN11):c.879C>G (p.His293Gln) rs117730996
NM_002834.5(PTPN11):c.898C>A (p.Pro300Thr)
NM_002834.5(PTPN11):c.913A>G (p.Ile305Val) rs730880995
NM_002834.5(PTPN11):c.91G>T (p.Ala31Ser)
NM_002834.5(PTPN11):c.997T>A (p.Cys333Ser) rs730880993

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