ClinVar Miner

List of variants reported as benign for autosomal dominant hypophosphatemic rickets by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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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.*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.*29C>G rs71534281 0.00140
NM_020638.3(FGF23):c.*235C>T rs566868058 0.00064
NM_020638.3(FGF23):c.*2062A>C rs558079364 0.00028
NM_020638.3(FGF23):c.551A>G (p.Asp184Gly) rs144925325 0.00019
NM_020638.3(FGF23):c.*1803C>T rs13312801 0.00012
NM_020638.3(FGF23):c.331G>A (p.Glu111Lys) rs765478662 0.00005
NM_020638.3(FGF23):c.515C>T (p.Pro172Leu) rs573322878 0.00001
NM_020638.3(FGF23):c.-53C>G rs187035769

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