List of variants studied for vitamin D-dependent rickets by 3billion, Medical Genetics

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000785.4(CYP27B1):c.1286G>A (p.Arg429His)	rs568165874	0.00011
NM_000376.3(VDR):c.460C>T (p.Arg154Trp)	rs746619116	0.00001
NM_000376.3(VDR):c.88C>T (p.Arg30Ter)	rs121909801	0.00001
NM_000376.3(VDR):c.1204C>T (p.Arg402Cys)
NM_000785.4(CYP27B1):c.1286G>C (p.Arg429Pro)	rs568165874
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.1388T>C (p.Leu463Pro)	rs2140396100
NM_000785.4(CYP27B1):c.335C>T (p.Pro112Leu)

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