ClinVar Miner

List of variants in gene INPP5E reported as pathogenic by Invitae

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730 0.00006
NM_019892.6(INPP5E):c.1754G>A (p.Arg585His) rs752300607 0.00005
NM_019892.6(INPP5E):c.1456C>T (p.Arg486Cys) rs75939033 0.00004
NM_019892.6(INPP5E):c.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724 0.00003
NM_019892.6(INPP5E):c.1064C>T (p.Thr355Met) rs863225198 0.00002
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_019892.6(INPP5E):c.1747G>A (p.Asp583Asn) rs756888841 0.00002
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys) rs763992407 0.00002
NM_019892.6(INPP5E):c.1760del (p.Val587fs) rs775518991 0.00002
NM_019892.6(INPP5E):c.944C>T (p.Pro315Leu) rs754637179 0.00002
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp) rs756789619 0.00001
NM_019892.6(INPP5E):c.1565G>C (p.Gly522Ala) rs771866500 0.00001
NM_019892.6(INPP5E):c.1629C>G (p.Tyr543Ter) rs753398503 0.00001
NM_019892.6(INPP5E):c.1796G>A (p.Arg599Gln) rs750836133 0.00001
NM_019892.6(INPP5E):c.1862G>A (p.Arg621Gln) rs1588830568 0.00001
NM_019892.6(INPP5E):c.874C>G (p.Arg292Gly) rs753742613 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NC_000009.12:g.(?_136429675)_(136438954_?)del
NM_019892.6(INPP5E):c.1103del (p.His368fs)
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1253_1256del (p.Phe418fs) rs2131608672
NM_019892.6(INPP5E):c.1324_1327dup (p.Val443fs)
NM_019892.6(INPP5E):c.1367A>C (p.Asn456Thr) rs2131607846
NM_019892.6(INPP5E):c.15_16del (p.Asn7fs) rs2131620438
NM_019892.6(INPP5E):c.166del (p.Ala56fs) rs2131619961
NM_019892.6(INPP5E):c.1726T>G (p.Cys576Gly) rs2131604859
NM_019892.6(INPP5E):c.1761_1763dup (p.Tyr588Ter)
NM_019892.6(INPP5E):c.1795C>T (p.Arg599Ter) rs1191043398
NM_019892.6(INPP5E):c.1844T>G (p.Leu615Ter) rs1564430716
NM_019892.6(INPP5E):c.1888C>T (p.Gln630Ter)
NM_019892.6(INPP5E):c.1922del (p.Cys641fs) rs1431917892
NM_019892.6(INPP5E):c.2_10del (p.Met1_Ser3del) rs2131620472
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_019892.6(INPP5E):c.473dup (p.Gly158_Asn159insTer) rs779450345
NM_019892.6(INPP5E):c.748del (p.Leu250fs) rs1346748926
NM_019892.6(INPP5E):c.781dup (p.Ala261fs)
NM_019892.6(INPP5E):c.925C>T (p.Gln309Ter)
NM_019892.6(INPP5E):c.931C>T (p.Gln311Ter)

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