List of variants in gene combination CYP2R1, PDE3B reported as likely pathogenic for Vitamin D hydroxylation-deficient rickets, type 1B

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_024514.5(CYP2R1):c.1120dup (p.Ile374fs)	rs782459395	0.00058
NM_024514.5(CYP2R1):c.628_629del (p.Met210fs)	rs782242126	0.00008
NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter)	rs576642411	0.00003
NM_024514.5(CYP2R1):c.219C>A (p.Tyr73Ter)	rs1306247629	0.00001
NM_024514.5(CYP2R1):c.289G>T (p.Glu97Ter)	rs1555014321	0.00001
NM_024514.5(CYP2R1):c.367+1G>A	rs202011621	0.00001
NM_024514.5(CYP2R1):c.595C>T (p.Arg199Ter)	rs782285382	0.00001
NM_024514.5(CYP2R1):c.1000+1G>A
NM_024514.5(CYP2R1):c.226-1G>T
NM_024514.5(CYP2R1):c.31_40dup (p.Leu14fs)
NM_024514.5(CYP2R1):c.412C>T (p.Arg138Ter)
NM_024514.5(CYP2R1):c.416T>G (p.Leu139Ter)
NM_024514.5(CYP2R1):c.563C>A (p.Ser188Ter)
NM_024514.5(CYP2R1):c.726dup (p.His243fs)

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