List of variants in gene CYP27B1 reported as likely benign for bone disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_000785.4(CYP27B1):c.942G>A (p.Leu314=)	rs8176345	0.02124
NM_000785.4(CYP27B1):c.*415G>A	rs8176351	0.01487
NM_000785.4(CYP27B1):c.*77G>A	rs8176350	0.00334
NM_000785.4(CYP27B1):c.1452G>A (p.Ala484=)	rs8176349	0.00095
NM_000785.4(CYP27B1):c.690G>A (p.Val230=)	rs61734540	0.00042
NM_000785.4(CYP27B1):c.1216-18T>G	rs188819808	0.00031
NM_000785.4(CYP27B1):c.387-8C>A	rs375741542	0.00016
NM_000785.4(CYP27B1):c.54G>A (p.Ala18=)	rs537715358	0.00007
NM_000785.4(CYP27B1):c.330C>T (p.Phe110=)	rs546648396	0.00001
NM_000785.4(CYP27B1):c.386+14G>A	rs373607899

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