ClinVar Miner

List of variants in gene INPP5E reported as uncertain significance by Ambry Genetics

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser) rs565209005 0.00026
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370 0.00006
NM_019892.6(INPP5E):c.1388C>T (p.Ala463Val) rs199956627 0.00006
NM_019892.6(INPP5E):c.746C>T (p.Ser249Phe) rs550485638 0.00005
NM_019892.6(INPP5E):c.593G>C (p.Ser198Thr) rs141286608 0.00004
NM_019892.6(INPP5E):c.752G>C (p.Arg251Pro) rs201792737 0.00003
NM_019892.6(INPP5E):c.872C>T (p.Ala291Val) rs759397125 0.00003
NM_019892.6(INPP5E):c.1403G>A (p.Arg468His) rs112089228 0.00002
NM_019892.6(INPP5E):c.1465G>A (p.Val489Met) rs781083748 0.00002
NM_019892.6(INPP5E):c.1535G>A (p.Arg512Gln) rs750777734 0.00002
NM_019892.6(INPP5E):c.1747G>A (p.Asp583Asn) rs756888841 0.00002
NM_019892.6(INPP5E):c.958G>A (p.Glu320Lys) rs1254993477 0.00002
NM_019892.6(INPP5E):c.479C>G (p.Pro160Arg) rs774738007 0.00001
NM_019892.6(INPP5E):c.739G>T (p.Asp247Tyr) rs749897420 0.00001
NM_019892.6(INPP5E):c.107C>T (p.Ala36Val)
NM_019892.6(INPP5E):c.1175C>G (p.Thr392Arg)
NM_019892.6(INPP5E):c.1493T>C (p.Val498Ala)
NM_019892.6(INPP5E):c.1672G>A (p.Val558Ile) rs1417022247
NM_019892.6(INPP5E):c.1910C>G (p.Ser637Cys)
NM_019892.6(INPP5E):c.194C>T (p.Ala65Val)
NM_019892.6(INPP5E):c.28C>G (p.Pro10Ala)
NM_019892.6(INPP5E):c.352A>C (p.Ser118Arg)
NM_019892.6(INPP5E):c.356A>C (p.Glu119Ala)
NM_019892.6(INPP5E):c.407C>T (p.Ser136Phe)
NM_019892.6(INPP5E):c.427T>C (p.Ser143Pro)
NM_019892.6(INPP5E):c.467C>T (p.Ser156Leu)
NM_019892.6(INPP5E):c.949A>G (p.Ser317Gly) rs1186646391
NM_019892.6(INPP5E):c.95C>G (p.Pro32Arg) rs1018506310

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