ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance for Noonan syndrome 1; Juvenile myelomonocytic leukemia; Metachondromatosis; LEOPARD syndrome 1

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797 0.00007
NM_002834.5(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214 0.00006
NM_002834.5(PTPN11):c.893A>G (p.Asn298Ser) rs572274623 0.00004
NM_002834.5(PTPN11):c.1190C>T (p.Thr397Met) rs767503386 0.00003
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00003
NM_002834.5(PTPN11):c.1327C>T (p.His443Tyr) rs779236638 0.00003
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00003
NM_002834.5(PTPN11):c.1594G>A (p.Glu532Lys) rs587778634 0.00002
NM_002834.5(PTPN11):c.455G>A (p.Arg152His) rs397507521 0.00002
NM_002834.5(PTPN11):c.1041A>G (p.Gln347=) rs766297596 0.00001
NM_002834.5(PTPN11):c.1048T>G (p.Ser350Ala) rs146571700 0.00001
NM_002834.5(PTPN11):c.1124A>G (p.Tyr375Cys) rs41299183 0.00001
NM_002834.5(PTPN11):c.1144G>A (p.Val382Ile) rs1214510641 0.00001
NM_002834.5(PTPN11):c.1366G>A (p.Val456Met) rs397516796 0.00001
NM_002834.5(PTPN11):c.1648G>A (p.Ala550Thr) rs1048909771 0.00001
NM_002834.5(PTPN11):c.1715T>C (p.Met572Thr) rs1415602777 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.521G>A (p.Cys174Tyr) rs1324123217 0.00001
NM_002834.5(PTPN11):c.563A>G (p.Asp188Gly) rs1436513335 0.00001
NM_002834.5(PTPN11):c.642G>A (p.Gln214=) rs876661383 0.00001
NM_002834.5(PTPN11):c.643-9C>T rs750520685 0.00001
NM_002834.5(PTPN11):c.661A>G (p.Ile221Val) rs397516806 0.00001
NM_002834.5(PTPN11):c.853+19C>T rs1032100840 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.1070C>T (p.Thr357Met)
NM_002834.5(PTPN11):c.1261C>T (p.Arg421Trp) rs1355732645
NM_002834.5(PTPN11):c.1276C>A (p.His426Asn)
NM_002834.5(PTPN11):c.127C>G (p.Leu43Val) rs1566164987
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1303G>A (p.Val435Met) rs1054802954
NM_002834.5(PTPN11):c.1498C>G (p.Gln500Glu) rs2038714548
NM_002834.5(PTPN11):c.1599+4C>A rs142606486
NM_002834.5(PTPN11):c.1667A>G (p.Asp556Gly)
NM_002834.5(PTPN11):c.1685C>T (p.Pro562Leu) rs2038884191
NM_002834.5(PTPN11):c.1739A>G (p.Tyr580Cys) rs2038914051
NM_002834.5(PTPN11):c.1742A>C (p.Glu581Ala) rs2135930864
NM_002834.5(PTPN11):c.222G>A (p.Leu74=) rs1429492147
NM_002834.5(PTPN11):c.256G>A (p.Gly86Arg) rs925129380
NM_002834.5(PTPN11):c.289G>A (p.Glu97Lys) rs397507516
NM_002834.5(PTPN11):c.302C>T (p.Pro101Leu) rs2135862932
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.467A>G (p.Asp156Gly)
NM_002834.5(PTPN11):c.503C>T (p.Thr168Ile)
NM_002834.5(PTPN11):c.513G>C (p.Met171Ile)
NM_002834.5(PTPN11):c.529C>G (p.Leu177Val)
NM_002834.5(PTPN11):c.557G>A (p.Arg186Gln) rs764663951
NM_002834.5(PTPN11):c.570G>T (p.Leu190Phe)
NM_002834.5(PTPN11):c.585A>C (p.Glu195Asp)
NM_002834.5(PTPN11):c.643-20C>A
NM_002834.5(PTPN11):c.64A>G (p.Thr22Ala) rs757537175
NM_002834.5(PTPN11):c.683G>T (p.Ser228Ile) rs748085966
NM_002834.5(PTPN11):c.709G>A (p.Ala237Thr)
NM_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.770A>G (p.Gln257Arg) rs2038442309
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.881A>G (p.Asp294Gly)

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