ClinVar Miner

List of variants in gene VDR reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_000376.3(VDR):c.149G>A (p.Arg50Gln) rs121909794 0.00002
NM_000376.3(VDR):c.88C>T (p.Arg30Ter) rs121909801 0.00001
NM_000376.3(VDR):c.941T>G (p.Ile314Ser) rs121909799 0.00001
NM_000376.3(VDR):c.1036G>A (p.Val346Met) rs267607169
NM_000376.3(VDR):c.1171C>A (p.Arg391Ser) rs121909800
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys) rs121909800
NM_000376.3(VDR):c.1190A>C (p.His397Pro) rs886037890
NM_000376.3(VDR):c.137G>A (p.Gly46Asp) rs121909797
NM_000376.3(VDR):c.148C>T (p.Arg50Ter) rs201106427
NM_000376.3(VDR):c.239G>A (p.Arg80Gln) rs121909793
NM_000376.3(VDR):c.366del (p.Lys123fs) rs1592107753
NM_000376.3(VDR):c.454C>T (p.Gln152Ter) rs121909795
NM_000376.3(VDR):c.821G>T (p.Arg274Leu) rs121909796
NM_000376.3(VDR):c.856T>C (p.Trp286Arg)
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter) rs121909792
NM_000376.3(VDR):c.915C>G (p.His305Gln) rs121909798
NM_000376.3(VDR):c.985G>A (p.Glu329Lys) rs121909802
NM_000376.3(VDR):c.98G>A (p.Gly33Asp) rs121909790

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