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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000376.3(VDR):c.2T>C (p.Met1Thr)	rs2228570	0.66130
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)	rs121909791	0.00004
NM_000376.3(VDR):c.775C>G (p.Gln259Glu)	rs149122494	0.00003
NM_000376.3(VDR):c.-45A>G	rs752414831	0.00001
NM_000376.3(VDR):c.-2-1G>A	rs2540017785
NM_000376.3(VDR):c.1024+1G>A
NM_000376.3(VDR):c.1027C>T (p.Arg343Cys)	rs1057521095
NM_000376.3(VDR):c.1036G>A (p.Val346Met)	rs267607169
NM_000376.3(VDR):c.1153C>T (p.Gln385Ter)
NM_000376.3(VDR):c.146+1G>T	rs2540017090
NM_000376.3(VDR):c.821G>A (p.Arg274His)	rs121909796
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)	rs121909792
NM_000376.3(VDR):c.937del (p.Leu313fs)
NM_000376.3(VDR):c.985G>C (p.Glu329Gln)	rs121909802

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