ClinVar Miner

List of variants studied for rickets by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.146+5G>A rs756376013 0.00003
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000376.3(VDR):c.670C>T (p.Leu224Phe)
NM_000376.3(VDR):c.820C>T (p.Arg274Cys) rs757881350
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000444.6(PHEX):c.1174-10_1174-1del
NM_000444.6(PHEX):c.1241del (p.Leu414fs) rs886041446
NM_000444.6(PHEX):c.1318G>T (p.Glu440Ter)
NM_000444.6(PHEX):c.1536T>G (p.Tyr512Ter)
NM_000444.6(PHEX):c.1645C>T (p.Arg549Ter) rs886041224
NM_000444.6(PHEX):c.1699C>T (p.Arg567Ter) rs137853271
NM_000444.6(PHEX):c.1701A>C (p.Arg567=)
NM_000444.6(PHEX):c.188-2A>C
NM_000444.6(PHEX):c.1966-1G>T rs1064795147
NM_000444.6(PHEX):c.208_212del (p.Val70fs) rs1927568587
NM_000444.6(PHEX):c.2104C>T (p.Arg702Ter) rs886041226
NM_000444.6(PHEX):c.2148-10C>A
NM_000444.6(PHEX):c.2237G>T (p.Cys746Phe) rs1057517799
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter) rs886041227
NM_000444.6(PHEX):c.292dup (p.Met98fs)
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000444.6(PHEX):c.846del (p.Glu283fs)
NM_000444.6(PHEX):c.871C>T (p.Arg291Ter) rs866429868
NM_000444.6(PHEX):c.887T>C (p.Met296Thr)
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro) rs568165874
NM_006208.3(ENPP1):c.1724-1G>T
NM_006208.3(ENPP1):c.195_197delinsAA (p.Ala66fs)
NM_024514.5(CYP2R1):c.367+1G>A rs202011621
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs) rs1422405747

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