ClinVar Miner

List of variants in gene INPP5E studied for not specified

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Gene type:
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Total variants: 72
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HGVS dbSNP gnomAD frequency
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.1549+23A>G rs11146014 0.28999
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.1802+49G>A rs4451431 0.15392
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
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.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.531C>A (p.Ala177=) rs58206296 0.01135
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_019892.6(INPP5E):c.-31G>C rs554931078 0.00466
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173 0.00415
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
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.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.1623C>T (p.Asp541=) rs77248046 0.00068
NM_019892.6(INPP5E):c.1803-20C>T rs190316580 0.00057
NM_019892.6(INPP5E):c.1159+9G>A rs114937687 0.00052
NM_019892.6(INPP5E):c.1191C>T (p.Ile397=) rs558778286 0.00029
NM_019892.6(INPP5E):c.875G>A (p.Arg292His) rs199873582 0.00027
NM_019892.6(INPP5E):c.1549+40G>A rs11146013 0.00022
NM_019892.6(INPP5E):c.1457G>A (p.Arg486His) rs367592401 0.00010
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.1380C>T (p.Ser460=) rs145543466 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.1304G>A (p.Arg435Gln) rs121918129 0.00003
NM_019892.6(INPP5E):c.1374T>C (p.Tyr458=) rs886038652 0.00003
NM_019892.6(INPP5E):c.872C>T (p.Ala291Val) rs759397125 0.00003
NM_019892.6(INPP5E):c.1133G>A (p.Arg378His) rs758951947 0.00002
NM_019892.6(INPP5E):c.1393G>A (p.Val465Ile) rs750331066 0.00002
NM_019892.6(INPP5E):c.1544G>A (p.Arg515Gln) rs752106876 0.00002
NM_019892.6(INPP5E):c.1732G>A (p.Gly578Arg) rs559636009 0.00002
NM_019892.6(INPP5E):c.853T>C (p.Leu285=) rs763694461 0.00002
NM_019892.6(INPP5E):c.1387+17T>C rs931544953 0.00001
NM_019892.6(INPP5E):c.1669C>T (p.Arg557Cys) rs1024279229 0.00001
NM_019892.6(INPP5E):c.907G>A (p.Val303Met) rs746212325 0.00001
NC_000009.11:g.(139327732_139328500)_(139334275_?)dup
NM_019892.5(INPP5E):c.1159+7_1159+8ins18
NM_019892.6(INPP5E):c.1154G>A (p.Cys385Tyr) rs863225200
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.1280-11T>C rs886038651
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1543C>A (p.Arg515=) rs13297509
NM_019892.6(INPP5E):c.1549+17del rs761489335
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.1857_1858del (p.Arg620fs) rs1554792421
NM_019892.6(INPP5E):c.1905_1906del (p.Asn636fs) rs2131604074
NM_019892.6(INPP5E):c.33C>T (p.Ser11=) rs79161998
NM_019892.6(INPP5E):c.485C>G (p.Ser162Cys) rs2131618652
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103

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