ClinVar Miner

List of variants in gene FGF23 studied for calcium metabolic disease

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 82
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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.*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.57G>A (p.Met19Ile) rs766148024 0.00001
GRCh37/hg19 12p13.32(chr12:4477393-4488878)
NM_020638.3(FGF23):c.*1380TTC[1] rs550329870
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.*337_*340del rs886049407
NM_020638.3(FGF23):c.*340_*344del rs886049406
NM_020638.3(FGF23):c.*367_*372del rs58735464
NM_020638.3(FGF23):c.*368_*373del rs886049403
NM_020638.3(FGF23):c.*369_*372del rs58735464
NM_020638.3(FGF23):c.*372_*377del rs886049402
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.211+12T>G rs1865152731
NM_020638.3(FGF23):c.260G>A (p.Gly87Asp) rs863224872
NM_020638.3(FGF23):c.287T>C (p.Met96Thr) rs104894343
NM_020638.3(FGF23):c.313T>A (p.Ser105Thr) rs1865075955
NM_020638.3(FGF23):c.315+15del rs771309899
NM_020638.3(FGF23):c.367G>T (p.Gly123Trp) rs1220533001
NM_020638.3(FGF23):c.385T>C (p.Ser129Pro) rs1555096583
NM_020638.3(FGF23):c.386C>T (p.Ser129Phe) rs104894344
NM_020638.3(FGF23):c.414G>C (p.Leu138=) rs1865054870
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln) rs193922702
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.60C>T (p.Ser20=) rs763114180
NM_020638.3(FGF23):c.686G>A (p.Gly229Asp) rs1033823201

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