ClinVar Miner

List of variants in gene PTPN11 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 37
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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.853+17C>T rs746692191 0.00006
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.1379+6A>G rs746958309 0.00003
NM_002834.5(PTPN11):c.1642T>C (p.Ser548Pro) rs1057517907 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002834.5(PTPN11):c.1226G>C (p.Gly409Ala) rs201247699 0.00002
NM_002834.5(PTPN11):c.1649C>T (p.Ala550Val) rs767712281 0.00002
NM_002834.5(PTPN11):c.1262G>A (p.Arg421Gln) rs1420362815 0.00001
NM_002834.5(PTPN11):c.1380-14C>G rs193922657 0.00001
NM_002834.5(PTPN11):c.15-19C>A rs779587904 0.00001
NM_002834.5(PTPN11):c.1600-11C>G rs1472156150 0.00001
NM_002834.5(PTPN11):c.1697C>T (p.Thr566Met) rs150730493 0.00001
NM_002834.5(PTPN11):c.642+19T>C rs772465708 0.00001
NM_002834.5(PTPN11):c.652A>T (p.Thr218Ser) rs768555552 0.00001
NM_002834.5(PTPN11):c.827A>G (p.Lys276Arg) rs777603059 0.00001
NM_002834.5(PTPN11):c.-13G>A rs760374212
NM_002834.5(PTPN11):c.-7G>A
NM_002834.5(PTPN11):c.1093A>C (p.Ser365Arg) rs1566183223
NM_002834.5(PTPN11):c.127C>T (p.Leu43Phe) rs1566164987
NM_002834.5(PTPN11):c.1382C>G (p.Ala461Gly) rs397509344
NM_002834.5(PTPN11):c.1495T>A (p.Ser499Thr) rs1566186813
NM_002834.5(PTPN11):c.1496C>T (p.Ser499Phe)
NM_002834.5(PTPN11):c.1499A>G (p.Gln500Arg) rs1173984843
NM_002834.5(PTPN11):c.1660A>G (p.Ser554Gly) rs2135928795
NM_002834.5(PTPN11):c.1669C>A (p.Gln557Lys) rs1024227490
NM_002834.5(PTPN11):c.318T>A (p.Asp106Glu)
NM_002834.5(PTPN11):c.329A>G (p.Glu110Gly) rs397507519
NM_002834.5(PTPN11):c.561T>G (p.Phe187Leu) rs2135869491
NM_002834.5(PTPN11):c.562G>A (p.Asp188Asn) rs1555267939
NM_002834.5(PTPN11):c.652A>G (p.Thr218Ala) rs768555552
NM_002834.5(PTPN11):c.853+4A>C
NM_002834.5(PTPN11):c.862A>G (p.Thr288Ala) rs2135900982
NM_002834.5(PTPN11):c.868G>A (p.Val290Ile) rs1555269782
NM_002834.5(PTPN11):c.880G>A (p.Asp294Asn)
NM_002834.5(PTPN11):c.971A>G (p.Lys324Arg) rs772684421

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