ClinVar Miner

List of variants in gene FGF23 studied for hereditary hypophosphatemic rickets

Included ClinVar conditions (12):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 101
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_020638.3(FGF23):c.*1429A>T rs11063112 0.22976
NM_020638.3(FGF23):c.716C>T (p.Thr239Met) rs7955866 0.11385
NM_020638.3(FGF23):c.*1079A>G rs13312798 0.01230
NM_020638.3(FGF23):c.*23T>G rs13312794 0.00893
NM_020638.3(FGF23):c.*388G>A rs13312795 0.00731
NM_020638.3(FGF23):c.*1971T>C rs140798293 0.00403
NM_020638.3(FGF23):c.*1471C>A rs114125104 0.00388
NM_020638.3(FGF23):c.*1219C>T rs115582772 0.00387
NM_020638.3(FGF23):c.*1316C>A rs138576496 0.00387
NM_020638.3(FGF23):c.*1464T>C rs144700678 0.00387
NM_020638.3(FGF23):c.583C>T (p.Pro195Ser) rs13312793 0.00310
NM_020638.3(FGF23):c.*1772G>A rs13312800 0.00298
NM_020638.3(FGF23):c.423G>T (p.Ala141=) rs13312792 0.00290
NM_020638.3(FGF23):c.*1886C>A rs183802802 0.00169
NM_020638.3(FGF23):c.*553C>A rs80210924 0.00163
NM_020638.3(FGF23):c.211+19T>C rs141828684 0.00162
NM_020638.3(FGF23):c.*29C>G rs71534281 0.00140
NM_020638.3(FGF23):c.*1575T>C rs562433374 0.00088
NM_020638.3(FGF23):c.*235C>T rs566868058 0.00064
NM_020638.3(FGF23):c.342G>A (p.Arg114=) rs138972495 0.00048
NM_020638.3(FGF23):c.*2062A>C rs558079364 0.00028
NM_020638.3(FGF23):c.*784C>T rs553998728 0.00022
NM_020638.3(FGF23):c.*1398T>A rs531815578 0.00019
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) rs144925325 0.00019
NM_020638.3(FGF23):c.*998C>G rs71583766 0.00017
NM_020638.3(FGF23):c.*1492T>C rs986708682 0.00014
NM_020638.3(FGF23):c.*1803C>T rs13312801 0.00012
NM_020638.3(FGF23):c.559C>G (p.Arg187Gly) rs190841442 0.00007
NM_020638.3(FGF23):c.88C>T (p.Pro30Ser) rs758725402 0.00006
NM_020638.3(FGF23):c.*181T>C rs886049409 0.00005
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) rs765478662 0.00005
NM_020638.3(FGF23):c.*1049C>T rs13312797 0.00004
NM_020638.3(FGF23):c.636C>A (p.Ser212Arg) rs749770315 0.00004
NM_020638.3(FGF23):c.*1292C>T rs897877189 0.00003
NM_020638.3(FGF23):c.*1352T>C rs886049398 0.00003
NM_020638.3(FGF23):c.*182G>A rs563817819 0.00003
NM_020638.3(FGF23):c.*856C>G rs886049399 0.00003
NM_020638.3(FGF23):c.-23C>T rs769953313 0.00003
NM_020638.3(FGF23):c.64C>T (p.Leu22Phe) rs376694108 0.00003
NM_020638.3(FGF23):c.73T>C (p.Tyr25His) rs769336439 0.00003
NM_020638.3(FGF23):c.*944G>A rs561820380 0.00002
NM_020638.3(FGF23):c.249G>A (p.Val83=) rs753676774 0.00002
NM_020638.3(FGF23):c.46G>A (p.Val16Ile) rs760118094 0.00002
NM_020638.3(FGF23):c.*1134A>T rs1865034354 0.00001
NM_020638.3(FGF23):c.*1925A>G rs886049397 0.00001
NM_020638.3(FGF23):c.*614G>A rs886049401 0.00001
NM_020638.3(FGF23):c.*93G>A rs886049410 0.00001
NM_020638.3(FGF23):c.138A>G (p.Thr46=) rs368115734 0.00001
NM_020638.3(FGF23):c.211A>G (p.Ser71Gly) rs104894342 0.00001
NM_020638.3(FGF23):c.457C>G (p.Pro153Ala) rs774018822 0.00001
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) rs573322878 0.00001
NM_020638.3(FGF23):c.51C>T (p.Cys17=) rs752187740 0.00001
NM_020638.3(FGF23):c.527G>A (p.Arg176Gln) rs104894347 0.00001
NM_020638.3(FGF23):c.57G>A (p.Met19Ile) rs766148024 0.00001
NM_020638.3(FGF23):c.673G>A (p.Gly225Arg) rs750025882 0.00001
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
NM_020638.3(FGF23):c.*1548T>G rs762018989
NM_020638.3(FGF23):c.*278G>C rs886049408
NM_020638.3(FGF23):c.*28C>G rs886049411
NM_020638.3(FGF23):c.*460A>T rs775907152
NM_020638.3(FGF23):c.*664A>T rs886049400
NM_020638.3(FGF23):c.-111C>T rs1865158291
NM_020638.3(FGF23):c.-53C>G rs187035769
NM_020638.3(FGF23):c.-55C>A rs760895385
NM_020638.3(FGF23):c.124C>G (p.Leu42Val)
NM_020638.3(FGF23):c.133G>A (p.Ala45Thr)
NM_020638.3(FGF23):c.13C>T (p.Arg5Cys)
NM_020638.3(FGF23):c.162G>C (p.Gln54His) rs193922701
NM_020638.3(FGF23):c.210_211del (p.Tyr70_Ser71delinsTer)
NM_020638.3(FGF23):c.211+12T>G rs1865152731
NM_020638.3(FGF23):c.211+1G>A
NM_020638.3(FGF23):c.277T>C (p.Tyr93His)
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.315+15del rs771309899
NM_020638.3(FGF23):c.329C>T (p.Pro110Leu)
NM_020638.3(FGF23):c.330G>A (p.Pro110=)
NM_020638.3(FGF23):c.414G>C (p.Leu138=) rs1865054870
NM_020638.3(FGF23):c.428G>A (p.Arg143Lys)
NM_020638.3(FGF23):c.446T>C (p.Met149Thr)
NM_020638.3(FGF23):c.486C>G (p.Asn162Lys)
NM_020638.3(FGF23):c.515_529del (p.Pro172_Arg176del)
NM_020638.3(FGF23):c.529C>A (p.His177Asn)
NM_020638.3(FGF23):c.535C>T (p.Arg179Trp) rs28937882
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
NM_020638.3(FGF23):c.544G>A (p.Glu182Lys)
NM_020638.3(FGF23):c.550G>A (p.Asp184Asn)
NM_020638.3(FGF23):c.555G>A (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.555G>C (p.Ser185=) rs115283398
NM_020638.3(FGF23):c.559C>T (p.Arg187Trp) rs190841442
NM_020638.3(FGF23):c.60C>T (p.Ser20=) rs763114180
NM_020638.3(FGF23):c.61G>A (p.Val21Ile)
NM_020638.3(FGF23):c.637G>A (p.Ala213Thr)
NM_020638.3(FGF23):c.640G>A (p.Glu214Lys)
NM_020638.3(FGF23):c.685G>T (p.Gly229Cys)
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201
NM_020638.3(FGF23):c.688G>A (p.Gly230Ser)
NM_020638.3(FGF23):c.706G>C (p.Ala236Pro)
NM_020638.3(FGF23):c.725A>G (p.Glu242Gly)
NM_020638.3(FGF23):c.742G>A (p.Ala248Thr)
NM_020638.3(FGF23):c.746A>T (p.Lys249Met)
NM_020638.3(FGF23):c.751A>G (p.Ile251Val)

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.