List of variants studied for rickets by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_006208.3(ENPP1):c.313+11_313+15del	rs771304080	0.00163
NM_000444.6(PHEX):c.2167_2170dup (p.Phe724Ter)	rs1057518896
NM_000444.6(PHEX):c.397C>T (p.Gln133Ter)	rs151306376
NM_001177316.2(SLC34A3):c.980T>C (p.Leu327Pro)	rs1836433909
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)	rs141979823
NM_024514.5(CYP2R1):c.1181T>C (p.Ile394Thr)	rs1848277685

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