List of variants reported as pathogenic for vitamin D-dependent rickets by OMIM

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Total variants: 37

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)	rs121909791	0.00004
NM_000785.4(CYP27B1):c.1166G>A (p.Arg389His)	rs118204009	0.00004
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile)	rs118204008	0.00004
NM_000785.4(CYP27B1):c.262del (p.Val88fs)	rs387906260	0.00004
NM_000376.3(VDR):c.149G>A (p.Arg50Gln)	rs121909794	0.00002
NM_000376.3(VDR):c.88C>T (p.Arg30Ter)	rs121909801	0.00001
NM_000376.3(VDR):c.941T>G (p.Ile314Ser)	rs121909799	0.00001
NM_000785.4(CYP27B1):c.589+1G>A	rs761780097	0.00001
NM_000376.3(VDR):c.1036G>A (p.Val346Met)	rs267607169
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys)	rs121909800
NM_000376.3(VDR):c.137G>A (p.Gly46Asp)	rs121909797
NM_000376.3(VDR):c.239G>A (p.Arg80Gln)	rs121909793
NM_000376.3(VDR):c.366del (p.Lys123fs)	rs1592107753
NM_000376.3(VDR):c.454C>T (p.Gln152Ter)	rs121909795
NM_000376.3(VDR):c.821G>T (p.Arg274Leu)	rs121909796
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)	rs121909792
NM_000376.3(VDR):c.915C>G (p.His305Gln)	rs121909798
NM_000376.3(VDR):c.985G>A (p.Glu329Lys)	rs121909802
NM_000376.3(VDR):c.98G>A (p.Gly33Asp)	rs121909790
NM_000785.4(CYP27B1):c.1004G>C (p.Arg335Pro)	rs28934606
NM_000785.4(CYP27B1):c.1027C>T (p.Leu343Phe)	rs118204011
NM_000785.4(CYP27B1):c.1144C>T (p.Pro382Ser)	rs28934607
NM_000785.4(CYP27B1):c.1165C>G (p.Arg389Gly)	rs118204010
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.201_204delinsCTTCG (p.Gln67fs)	rs2140397731
NM_000785.4(CYP27B1):c.320G>A (p.Arg107His)	rs28934604
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu)	rs28934605
NM_000785.4(CYP27B1):c.386+1G>A	rs770204470
NM_000785.4(CYP27B1):c.566A>G (p.Glu189Gly)	rs118204012
NM_000785.4(CYP27B1):c.631del (p.Glu211fs)	rs387906258
NM_000785.4(CYP27B1):c.693del (p.Thr232fs)	rs387906259
NM_000785.4(CYP27B1):c.962C>G (p.Thr321Arg)	rs118204007
NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr)	rs1815413655
NM_024514.5(CYP2R1):c.124_137delinsCG (p.Gly42_Leu46delinsArg)	rs1848879955
NM_024514.5(CYP2R1):c.367+1G>A	rs202011621
NM_024514.5(CYP2R1):c.768dup (p.Leu257fs)	rs1422405747

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