ClinVar Miner

List of variants studied for Vitamin D hydroxylation-deficient rickets, type 1B by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.367+1G>A	rs202011621	0.00001
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)	rs1422405747

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