List of variants studied for vitamin D-dependent rickets by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.433C>T (p.Arg145Ter)	rs576642411	0.00002
NM_000785.4(CYP27B1):c.1376G>A (p.Arg459His)	rs762550487	0.00001
NM_000376.3(VDR):c.985G>C (p.Glu329Gln)
NM_000785.4(CYP27B1):c.1034C>G (p.Ser345Ter)
NM_000785.4(CYP27B1):c.1038_1039del (p.Glu346fs)
NM_000785.4(CYP27B1):c.171dup (p.Leu58fs)	rs763437121
NM_000785.4(CYP27B1):c.779T>G (p.Met260Arg)
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)	rs111033566
NM_017460.6(CYP3A4):c.219-8T>C

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