ClinVar Miner

List of variants in gene PIKFYVE studied for corneal disorder

Included ClinVar conditions (70):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 177
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HGVS dbSNP gnomAD frequency
NM_015040.4(PIKFYVE):c.3564T>C (p.Asn1188=) rs1529978 0.99487
NM_015040.4(PIKFYVE):c.2087G>A (p.Ser696Asn) rs10932258 0.99262
NM_015040.4(PIKFYVE):c.*209G>C rs10208295 0.93103
NM_015040.4(PIKFYVE):c.5397A>G (p.Thr1799=) rs2118297 0.93088
NM_015040.4(PIKFYVE):c.2993C>G (p.Thr998Ser) rs893253 0.92807
NM_015040.4(PIKFYVE):c.3547C>A (p.Gln1183Lys) rs1529979 0.92765
NM_015040.4(PIKFYVE):c.2106C>T (p.Pro702=) rs10932259 0.92756
NM_015040.4(PIKFYVE):c.2984A>T (p.Gln995Leu) rs893254 0.92740
NM_015040.4(PIKFYVE):c.5435-47A>G rs994696 0.92719
NM_015040.4(PIKFYVE):c.5526A>G (p.Glu1842=) rs994697 0.92712
NM_015040.4(PIKFYVE):c.*128G>T rs10208191 0.92697
NM_015040.4(PIKFYVE):c.5028-8G>A rs2304544 0.92690
NM_015040.4(PIKFYVE):c.1321-42C>T rs893256 0.92654
NM_015040.4(PIKFYVE):c.5334G>A (p.Thr1778=) rs2304545 0.70349
NM_015040.4(PIKFYVE):c.3097T>G (p.Ser1033Ala) rs999890 0.13441
NM_015040.4(PIKFYVE):c.3114A>G (p.Arg1038=) rs999891 0.13429
NM_015040.4(PIKFYVE):c.*1262T>G rs6725527 0.10055
NM_015040.4(PIKFYVE):c.*2173C>T rs11538998 0.09994
NM_015040.4(PIKFYVE):c.*2281del rs56993638 0.05007
NM_015040.4(PIKFYVE):c.*2185C>G rs59149007 0.05003
NM_015040.4(PIKFYVE):c.5511T>C (p.Ile1837=) rs13020468 0.03491
NM_015040.4(PIKFYVE):c.1849A>G (p.Met617Val) rs16840913 0.03433
NM_015040.4(PIKFYVE):c.-160A>G rs34366347 0.03165
NM_015040.4(PIKFYVE):c.2191-15A>T rs16840942 0.03144
NM_015040.4(PIKFYVE):c.279A>G (p.Lys93=) rs36031854 0.03133
NM_015040.4(PIKFYVE):c.4731A>G (p.Gln1577=) rs35066043 0.03133
NM_015040.4(PIKFYVE):c.1983C>A (p.Ile661=) rs41305979 0.02061
NM_015040.4(PIKFYVE):c.*2247A>G rs13391849 0.01573
NM_015040.4(PIKFYVE):c.4989C>T (p.Cys1663=) rs35784095 0.01266
NM_015040.4(PIKFYVE):c.*1973_*1974insA rs199859183 0.01071
NM_015040.4(PIKFYVE):c.*1978T>C rs535013196 0.01071
NM_015040.4(PIKFYVE):c.*1098A>G rs147936107 0.00759
NM_015040.4(PIKFYVE):c.-166A>T rs530975785 0.00555
NM_015040.4(PIKFYVE):c.*1499T>G rs41295956 0.00527
NM_015040.4(PIKFYVE):c.*3324A>G rs114476866 0.00500
NM_015040.4(PIKFYVE):c.*78T>C rs115754381 0.00425
NM_015040.4(PIKFYVE):c.4215A>G (p.Leu1405=) rs35944808 0.00370
NM_015040.4(PIKFYVE):c.4629A>G (p.Ala1543=) rs61752190 0.00305
NM_015040.4(PIKFYVE):c.173-11C>T rs4675744 0.00299
NM_015040.4(PIKFYVE):c.4814T>G (p.Val1605Gly) rs61752191 0.00271
NM_015040.4(PIKFYVE):c.4774G>A (p.Gly1592Arg) rs148994064 0.00234
NM_015040.4(PIKFYVE):c.6060G>A (p.Leu2020=) rs146239645 0.00228
NM_015040.4(PIKFYVE):c.*615T>A rs182741783 0.00187
NM_015040.4(PIKFYVE):c.1715G>A (p.Arg572Gln) rs146158348 0.00139
NM_015040.4(PIKFYVE):c.*1923A>G rs151104146 0.00138
NM_015040.4(PIKFYVE):c.5343G>A (p.Glu1781=) rs140774753 0.00134
NM_015040.4(PIKFYVE):c.*2693A>G rs564043919 0.00126
NM_015040.4(PIKFYVE):c.1770C>T (p.Asn590=) rs61752185 0.00125
NM_015040.4(PIKFYVE):c.2718C>T (p.Tyr906=) rs61752187 0.00108
NM_015040.4(PIKFYVE):c.2535T>C (p.Ser845=) rs138885638 0.00088
NM_015040.4(PIKFYVE):c.*1090A>G rs41305981 0.00086
NM_015040.4(PIKFYVE):c.2892G>A (p.Pro964=) rs146556775 0.00080
NM_015040.4(PIKFYVE):c.4455G>A (p.Ser1485=) rs145498570 0.00076
NM_015040.4(PIKFYVE):c.2331+12T>A rs188586992 0.00075
NM_015040.4(PIKFYVE):c.*729T>C rs144852130 0.00070
NM_015040.4(PIKFYVE):c.2895G>A (p.Ala965=) rs149763308 0.00068
NM_015040.4(PIKFYVE):c.3459C>T (p.Ala1153=) rs147976705 0.00054
NM_015040.4(PIKFYVE):c.4156C>T (p.Arg1386Trp) rs188498825 0.00049
NM_015040.4(PIKFYVE):c.*2548C>T rs755578829 0.00041
NM_015040.4(PIKFYVE):c.2802T>A (p.Ile934=) rs61752188 0.00036
NM_015040.4(PIKFYVE):c.3354A>G (p.Gly1118=) rs149005796 0.00036
NM_015040.4(PIKFYVE):c.2881A>G (p.Thr961Ala) rs139991374 0.00031
NM_015040.4(PIKFYVE):c.*2143G>C rs184529823 0.00026
NM_015040.4(PIKFYVE):c.-157A>T rs886055529 0.00022
NM_015040.4(PIKFYVE):c.3804G>C (p.Gln1268His) rs767989671 0.00021
NM_015040.4(PIKFYVE):c.4436C>G (p.Thr1479Ser) rs144573813 0.00021
NM_015040.4(PIKFYVE):c.5322G>C (p.Gln1774His) rs146673873 0.00021
NM_015040.4(PIKFYVE):c.*1358C>T rs777999576 0.00019
NM_015040.4(PIKFYVE):c.2549C>T (p.Ala850Val) rs144852646 0.00016
NM_015040.4(PIKFYVE):c.5594C>T (p.Ala1865Val) rs137922460 0.00016
NM_015040.4(PIKFYVE):c.2016T>G (p.Gly672=) rs148810695 0.00011
NM_015040.4(PIKFYVE):c.5434+12A>T rs182134444 0.00011
NM_015040.4(PIKFYVE):c.*518C>A rs148739344 0.00010
NM_015040.4(PIKFYVE):c.4585A>C (p.Arg1529=) rs199542979 0.00009
NM_015040.4(PIKFYVE):c.2459-10T>C rs751439088 0.00008
NM_015040.4(PIKFYVE):c.5137A>G (p.Ser1713Gly) rs376604887 0.00008
NM_015040.4(PIKFYVE):c.1954G>A (p.Val652Ile) rs145916346 0.00007
NM_015040.4(PIKFYVE):c.*3186A>T rs753724076 0.00006
NM_015040.4(PIKFYVE):c.*552T>G rs886055536 0.00006
NM_015040.4(PIKFYVE):c.*798A>G rs886055540 0.00006
NM_015040.4(PIKFYVE):c.5573G>A (p.Arg1858Gln) rs2289170 0.00005
NM_015040.4(PIKFYVE):c.4567G>A (p.Val1523Ile) rs368783060 0.00004
NM_015040.4(PIKFYVE):c.64A>C (p.Thr22Pro) rs373802805 0.00004
NM_015040.4(PIKFYVE):c.*1621A>G rs1046507081 0.00003
NM_015040.4(PIKFYVE):c.*3100T>G rs539067320 0.00003
NM_015040.4(PIKFYVE):c.*777A>G rs886055539 0.00003
NM_015040.4(PIKFYVE):c.1051-10G>T rs769292195 0.00003
NM_015040.4(PIKFYVE):c.1468+15C>T rs781345811 0.00003
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys) rs771948901 0.00003
NM_015040.4(PIKFYVE):c.1946G>A (p.Arg649Gln) rs377372888 0.00003
NM_015040.4(PIKFYVE):c.3719+14C>A rs765598840 0.00003
NM_015040.4(PIKFYVE):c.6243C>T (p.Asp2081=) rs746132026 0.00003
NM_015040.4(PIKFYVE):c.*2495A>G rs548954146 0.00002
NM_015040.4(PIKFYVE):c.*2738A>G rs553290241 0.00002
NM_015040.4(PIKFYVE):c.1206A>G (p.Thr402=) rs745795722 0.00002
NM_015040.4(PIKFYVE):c.*1624A>T rs1435627063 0.00001
NM_015040.4(PIKFYVE):c.*1826A>G rs886055545 0.00001
NM_015040.4(PIKFYVE):c.*1938G>C rs140749141 0.00001
NM_015040.4(PIKFYVE):c.*2238A>G rs1403001936 0.00001
NM_015040.4(PIKFYVE):c.*240C>T rs567925149 0.00001
NM_015040.4(PIKFYVE):c.*2861C>G rs1164636943 0.00001
NM_015040.4(PIKFYVE):c.*3074A>C rs749165043 0.00001
NM_015040.4(PIKFYVE):c.*3329G>T rs778853940 0.00001
NM_015040.4(PIKFYVE):c.*492T>A rs1454811692 0.00001
NM_015040.4(PIKFYVE):c.*519G>A rs551218307 0.00001
NM_015040.4(PIKFYVE):c.*814T>G rs1265056669 0.00001
NM_015040.4(PIKFYVE):c.1320+4C>T rs1693797581 0.00001
NM_015040.4(PIKFYVE):c.1621C>A (p.Pro541Thr) rs886055531 0.00001
NM_015040.4(PIKFYVE):c.1746C>T (p.Phe582=) rs1259685306 0.00001
NM_015040.4(PIKFYVE):c.2164A>G (p.Thr722Ala) rs566701537 0.00001
NM_015040.4(PIKFYVE):c.2344C>T (p.Arg782Ter) rs992128517 0.00001
NM_015040.4(PIKFYVE):c.2458+10C>G rs751563395 0.00001
NM_015040.4(PIKFYVE):c.2733C>T (p.Ile911=) rs755202351 0.00001
NM_015040.4(PIKFYVE):c.307C>T (p.Arg103Cys) rs778101021 0.00001
NM_015040.4(PIKFYVE):c.308G>A (p.Arg103His) rs891262232 0.00001
NM_015040.4(PIKFYVE):c.3308A>G (p.Lys1103Arg) rs121918336 0.00001
NM_015040.4(PIKFYVE):c.3511G>A (p.Ala1171Thr) rs748235174 0.00001
NM_015040.4(PIKFYVE):c.37T>C (p.Ser13Pro) rs749616889 0.00001
NM_015040.4(PIKFYVE):c.4559G>T (p.Arg1520Ile) rs1698191316 0.00001
NM_015040.4(PIKFYVE):c.4811-9T>C rs148173811 0.00001
NM_015040.4(PIKFYVE):c.4932-13A>C rs186801100 0.00001
NM_015040.4(PIKFYVE):c.5088C>T (p.Ala1696=) rs753209769 0.00001
NM_015040.4(PIKFYVE):c.5296C>T (p.Arg1766Cys) rs776997681 0.00001
NM_015040.4(PIKFYVE):c.5716-11C>A rs886055535 0.00001
NM_015040.4(PIKFYVE):c.6165A>C (p.Gly2055=) rs748688653 0.00001
NM_015040.3(PIKFYVE):c.2008_2190del (p.Ile670_Gln730del)
NM_015040.4(PIKFYVE):c.*1001G>T rs886055541
NM_015040.4(PIKFYVE):c.*1196A>G rs886055542
NM_015040.4(PIKFYVE):c.*1382T>C rs892979377
NM_015040.4(PIKFYVE):c.*1429G>C rs886055543
NM_015040.4(PIKFYVE):c.*1552G>A rs1382245964
NM_015040.4(PIKFYVE):c.*1638del rs886055544
NM_015040.4(PIKFYVE):c.*2027C>T rs551912289
NM_015040.4(PIKFYVE):c.*2030G>C rs571740486
NM_015040.4(PIKFYVE):c.*210G>A rs77542967
NM_015040.4(PIKFYVE):c.*2218A>T rs886055546
NM_015040.4(PIKFYVE):c.*2520T>A rs1296543469
NM_015040.4(PIKFYVE):c.*2520T>C rs1296543469
NM_015040.4(PIKFYVE):c.*2549G>A rs16841092
NM_015040.4(PIKFYVE):c.*2739A>C rs1208320222
NM_015040.4(PIKFYVE):c.*2763C>T rs1700260174
NM_015040.4(PIKFYVE):c.*3027A>C rs573143426
NM_015040.4(PIKFYVE):c.*3099_*3100insGTT rs567074655
NM_015040.4(PIKFYVE):c.*3099_*3100insGTTTTTTTT rs1553538567
NM_015040.4(PIKFYVE):c.*3102_*3104dup rs10622340
NM_015040.4(PIKFYVE):c.*3304TGTAT[1] rs71968755
NM_015040.4(PIKFYVE):c.*518C>T rs148739344
NM_015040.4(PIKFYVE):c.*720A>G rs886055537
NM_015040.4(PIKFYVE):c.*772dup rs886055538
NM_015040.4(PIKFYVE):c.*868T>C rs1167656721
NM_015040.4(PIKFYVE):c.*968G>T rs1700155137
NM_015040.4(PIKFYVE):c.1140G>A (p.Thr380=) rs750959225
NM_015040.4(PIKFYVE):c.1522G>C (p.Asp508His) rs886055530
NM_015040.4(PIKFYVE):c.1928A>G (p.Gln643Arg) rs886055532
NM_015040.4(PIKFYVE):c.2191-6A>T rs758552809
NM_015040.4(PIKFYVE):c.235C>A (p.Leu79Ile) rs1689715018
NM_015040.4(PIKFYVE):c.25C>T (p.Pro9Ser) rs1689422489
NM_015040.4(PIKFYVE):c.2641C>A (p.Pro881Thr) rs1338276014
NM_015040.4(PIKFYVE):c.2795T>C (p.Leu932Ser) rs2363468
NM_015040.4(PIKFYVE):c.2873A>T (p.His958Leu) rs371918240
NM_015040.4(PIKFYVE):c.2954A>G (p.Asp985Gly) rs1346610853
NM_015040.4(PIKFYVE):c.2959C>T (p.Gln987Ter) rs1559130873
NM_015040.4(PIKFYVE):c.2962C>T (p.Gln988Ter) rs121918337
NM_015040.4(PIKFYVE):c.3122A>G (p.Tyr1041Cys) rs886055533
NM_015040.4(PIKFYVE):c.3150dup (p.Asp1051fs) rs869312464
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=) rs766037305
NM_015040.4(PIKFYVE):c.3500C>G (p.Ser1167Ter) rs780579562
NM_015040.4(PIKFYVE):c.4167_4170del (p.Glu1389fs) rs387907335
NM_015040.4(PIKFYVE):c.4511G>A (p.Trp1504Ter) rs2125682979
NM_015040.4(PIKFYVE):c.4607G>A (p.Ser1536Asn) rs1698195187
NM_015040.4(PIKFYVE):c.4640A>G (p.Asn1547Ser) rs1698393358
NM_015040.4(PIKFYVE):c.4958A>G (p.Tyr1653Cys) rs886055534
NM_015040.4(PIKFYVE):c.5716-4T>C rs1214631493
NM_015040.4(PIKFYVE):c.5727G>A (p.Ala1909=) rs147789704
NM_015040.4(PIKFYVE):c.5727G>T (p.Ala1909=) rs147789704
NM_015040.4(PIKFYVE):c.904C>T (p.Arg302Ter) rs1195336213
NM_015040.4(PIKFYVE):c.935C>G (p.Ser312Ter) rs2125298689

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