ClinVar Miner

List of variants in gene INPP5E reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
NM_019892.6(INPP5E):c.1035-138T>A rs10735662 0.45396
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_019892.6(INPP5E):c.1034+120A>G rs10781543 0.41467
NM_019892.6(INPP5E):c.*328T>C rs35763810 0.41134
NM_019892.6(INPP5E):c.937-136C>A rs7851507 0.37410
NM_019892.6(INPP5E):c.1549+23A>G rs11146014 0.28999
NM_019892.6(INPP5E):c.1802+155G>A rs72775768 0.28718
NM_019892.6(INPP5E):c.1279+131C>T rs34619169 0.25890
NM_019892.6(INPP5E):c.1280-26T>C rs34302850 0.25844
NM_019892.6(INPP5E):c.1280-24C>T rs34936112 0.25833
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_019892.6(INPP5E):c.1035-127C>T rs11146021 0.20968
NM_019892.6(INPP5E):c.1280-116G>A rs34985258 0.20728
NM_019892.6(INPP5E):c.1280-105G>A rs35531907 0.20727
NM_019892.6(INPP5E):c.*98G>A rs35873563 0.20643
NM_019892.6(INPP5E):c.1802+156A>G rs68142670 0.20348
NM_019892.6(INPP5E):c.1802+49G>A rs4451431 0.15392
NM_019892.6(INPP5E):c.1034+266G>T rs10870197 0.11959
NM_019892.6(INPP5E):c.936+266G>A rs7864967 0.10896
NM_019892.6(INPP5E):c.1665+263C>T rs10870184 0.10875
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_019892.6(INPP5E):c.1665+100C>G rs73566940 0.05561
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_019892.6(INPP5E):c.1035-128G>A rs112904493 0.05122
NM_019892.6(INPP5E):c.1387+150G>A rs56704890 0.02984
NM_019892.6(INPP5E):c.1803-68C>T rs77350282 0.02540
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_019892.6(INPP5E):c.-174G>A rs544247720 0.01935
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_019892.6(INPP5E):c.1159+30T>A rs144347039 0.01729
NM_019892.6(INPP5E):c.1159+26C>T rs140797474 0.01671
NM_019892.6(INPP5E):c.1803-33G>A rs78191714 0.01565
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378 0.01340
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_019892.6(INPP5E):c.813-250A>G rs150340837 0.01230
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_019892.6(INPP5E):c.1387+119C>T rs79170989 0.00925
NM_019892.6(INPP5E):c.1666-80A>G rs77078626 0.00887
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_019892.6(INPP5E):c.937-237G>A rs145354979 0.00680
NM_019892.6(INPP5E):c.1665+142G>A rs75568636 0.00512
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_019892.6(INPP5E):c.1035-215A>G rs1054685108 0.00383
NM_019892.6(INPP5E):c.1035-254C>T rs144746258 0.00365
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NC_000009.12:g.136440101G>C rs73670267 0.00274
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
NM_019892.6(INPP5E):c.813-160G>A rs544687884 0.00249
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg) rs61734181 0.00243
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549 0.00177
NM_019892.6(INPP5E):c.1387+44G>A rs200841519 0.00174
NM_019892.6(INPP5E):c.21T>C (p.Asn7=) rs571588033 0.00135
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=) rs148539728 0.00128
NM_019892.6(INPP5E):c.120C>T (p.Pro40=) rs377154166 0.00125
NM_019892.6(INPP5E):c.1550-14C>T rs181576122 0.00117
NM_019892.6(INPP5E):c.1506G>A (p.Pro502=) rs74880446 0.00100
NM_019892.6(INPP5E):c.1623C>T (p.Asp541=) rs77248046 0.00068
NM_019892.6(INPP5E):c.813-8C>T rs373176644 0.00061
NM_019892.6(INPP5E):c.812+35G>T rs374776764 0.00058
NM_019892.6(INPP5E):c.1803-20C>T rs190316580 0.00057
NM_019892.6(INPP5E):c.469G>T (p.Gly157Trp) rs78211353 0.00057
NM_019892.6(INPP5E):c.1159+9G>A rs114937687 0.00052
NM_019892.6(INPP5E):c.1464C>T (p.Val488=) rs140255426 0.00037
NM_019892.6(INPP5E):c.460C>T (p.Pro154Ser) rs565209005 0.00026
NM_019892.6(INPP5E):c.1387+9G>A rs202236947 0.00007
NM_019892.6(INPP5E):c.1549+19G>A rs547569007 0.00007
NM_019892.6(INPP5E):c.1652C>T (p.Thr551Met) rs75342839 0.00007
NM_019892.6(INPP5E):c.1325C>T (p.Thr442Ile) rs201043370 0.00006
NM_019892.6(INPP5E):c.1380C>T (p.Ser460=) rs145543466 0.00006
NM_019892.6(INPP5E):c.1861C>T (p.Arg621Trp) rs142759730 0.00006
NM_019892.6(INPP5E):c.311A>T (p.Glu104Val) rs748786705 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.1162G>T (p.Val388Leu) rs863225201 0.00003
NM_019892.6(INPP5E):c.1577C>T (p.Pro526Leu) rs746867724 0.00003
NM_019892.6(INPP5E):c.872C>T (p.Ala291Val) rs759397125 0.00003
NM_019892.6(INPP5E):c.1402C>T (p.Arg468Cys) rs375909217 0.00002
NM_019892.6(INPP5E):c.982G>A (p.Asp328Asn) rs201857820 0.00002
NM_019892.6(INPP5E):c.1021G>A (p.Gly341Ser) rs780882740 0.00001
NM_019892.6(INPP5E):c.1387+17T>C rs931544953 0.00001
NM_019892.6(INPP5E):c.1630G>A (p.Asp544Asn) rs1161636527 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.35A>G (p.Glu12Gly) rs1029781765 0.00001
NM_019892.6(INPP5E):c.819C>T (p.Tyr273=) rs1444048193 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NC_000009.12:g.136439848G>A rs111413675
NM_019892.5(INPP5E):c.1159+7_1159+8ins18
NM_019892.6(INPP5E):c.-150C>T rs576919520
NM_019892.6(INPP5E):c.1132C>T (p.Arg378Cys) rs121918130
NM_019892.6(INPP5E):c.1159+16_1159+33dup rs1239490197
NM_019892.6(INPP5E):c.1159+33_1159+34insGGTGGGCGCGGCTGGAGGGGTGGGCGCGGCTGGAGG rs1239490197
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+8_1159+9insGGTGGGCGCAGCTGGAGG rs747240016
NM_019892.6(INPP5E):c.1361A>G (p.Asp454Gly) rs1057517749
NM_019892.6(INPP5E):c.1387+115G>A rs10870193
NM_019892.6(INPP5E):c.1387+49C>G rs184220742
NM_019892.6(INPP5E):c.1430A>C (p.Asp477Ala) rs1835716590
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1549+17del rs761489335
NM_019892.6(INPP5E):c.1550-72G>A rs68002978
NM_019892.6(INPP5E):c.1550-98del rs1245593720
NM_019892.6(INPP5E):c.1684A>G (p.Ser562Gly) rs863225197
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1743G>C (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1802+132C>T rs73670263
NM_019892.6(INPP5E):c.1802+213_1802+215del rs34184721
NM_019892.6(INPP5E):c.33C>T (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.44del (p.Pro15fs) rs1332623576
NM_019892.6(INPP5E):c.473del (p.Gly158fs) rs779450345
NM_019892.6(INPP5E):c.490dup (p.Val164fs) rs886041204
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_019892.6(INPP5E):c.813-141G>C rs76470602
NM_019892.6(INPP5E):c.937-3C>G

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