List of variants reported as uncertain significance for Vitamin D hydroxylation-deficient rickets, type 1B by Fulgent Genetics, Fulgent Genetics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.467C>G (p.Ser156Cys)	rs140947977	0.00081
NM_024514.5(CYP2R1):c.851T>C (p.Met284Thr)	rs200183599	0.00014
NM_024514.5(CYP2R1):c.352A>G (p.Met118Val)	rs375085420	0.00007
NM_024514.5(CYP2R1):c.995T>C (p.Ile332Thr)	rs368317393	0.00006
NM_024514.5(CYP2R1):c.421G>A (p.Val141Ile)	rs782437679	0.00004
NM_024514.5(CYP2R1):c.1166T>A (p.Val389Glu)	rs782535484	0.00002
NM_024514.5(CYP2R1):c.1364G>A (p.Arg455Gln)	rs781875625	0.00002
NM_024514.5(CYP2R1):c.852G>A (p.Met284Ile)	rs782503732	0.00002
NM_024514.5(CYP2R1):c.950A>G (p.Asn317Ser)	rs147626987	0.00001
NM_024514.5(CYP2R1):c.1348G>C (p.Gly450Arg)	rs1565176051

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