ClinVar Miner

List of variants in gene PIKFYVE reported as uncertain significance for corneal disorder

Included ClinVar conditions (71):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 75
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015040.4(PIKFYVE):c.*615T>A rs182741783 0.00187
NM_015040.4(PIKFYVE):c.*1090A>G rs41305981 0.00086
NM_015040.4(PIKFYVE):c.*729T>C rs144852130 0.00070
NM_015040.4(PIKFYVE):c.*2548C>T rs755578829 0.00041
NM_015040.4(PIKFYVE):c.-157A>T rs886055529 0.00022
NM_015040.4(PIKFYVE):c.*1358C>T rs777999576 0.00019
NM_015040.4(PIKFYVE):c.*518C>A rs148739344 0.00010
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.4567G>A (p.Val1523Ile) rs368783060 0.00004
NM_015040.4(PIKFYVE):c.*1621A>G rs1046507081 0.00003
NM_015040.4(PIKFYVE):c.*777A>G rs886055539 0.00003
NM_015040.4(PIKFYVE):c.1711C>T (p.Arg571Cys) rs771948901 0.00003
NM_015040.4(PIKFYVE):c.*2495A>G rs548954146 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.*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.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.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.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_015040.4(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.*2218A>T rs886055546
NM_015040.4(PIKFYVE):c.*2520T>A rs1296543469
NM_015040.4(PIKFYVE):c.*2520T>C rs1296543469
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.*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.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.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.3122A>G (p.Tyr1041Cys) rs886055533
NM_015040.4(PIKFYVE):c.3270C>G (p.Leu1090=) rs766037305
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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.