List of variants reported as pathogenic for abnormal mineralization disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_000388.4(CASR):c.73C>T (p.Arg25Ter)	rs201633414	0.00010
NM_000785.4(CYP27B1):c.262del (p.Val88fs)	rs387906260	0.00004
NM_000388.4(CASR):c.206G>A (p.Arg69His)	rs193922432	0.00001
NM_000388.4(CASR):c.553C>T (p.Arg185Ter)	rs104893707
NM_000388.4(CASR):c.680G>T (p.Arg227Leu)	rs28936684
NM_000444.6(PHEX):c.1044del (p.Asp349fs)	rs1556026042
NM_000444.6(PHEX):c.118+1G>A	rs1131691731
NM_000444.6(PHEX):c.1808G>A (p.Trp603Ter)
NM_000444.6(PHEX):c.1927_1928del (p.Asn643fs)
NM_000444.6(PHEX):c.1936_1939dup (p.Asn647delinsArgTer)	rs886041368
NM_000444.6(PHEX):c.724del (p.Ala242fs)	rs1929832980
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu)
NM_000785.4(CYP27B1):c.57_69del (p.Glu20fs)
NM_020638.3(FGF23):c.536G>A (p.Arg179Gln)	rs193922702

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