List of variants studied for abnormal mineralization disorder by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_024514.5(CYP2R1):c.595C>T (p.Arg199Ter)	rs782285382	0.00001
NM_000376.3(VDR):c.1171C>T (p.Arg391Cys)	rs121909800
NM_000444.6(PHEX):c.1325_1326insCCCACCC (p.Arg443fs)	rs2147086366
NM_000444.6(PHEX):c.1376C>A (p.Ala459Glu)	rs2147086514
NM_000444.6(PHEX):c.142dup (p.Gln48fs)	rs2146979520
NM_000444.6(PHEX):c.1482+5G>C	rs1269067103
NM_000444.6(PHEX):c.1586_1586+1del	rs886041362
NM_000444.6(PHEX):c.1768+5G>A	rs1057524608
NM_000444.6(PHEX):c.2239C>T (p.Arg747Ter)	rs886041227
NM_000444.6(PHEX):c.350-1G>A	rs2147019098
NM_000444.6(PHEX):c.58C>T (p.Arg20Ter)	rs770573978
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.974C>T (p.Thr325Met)	rs762118198
NM_001177316.2(SLC34A3):c.1336-11_1336-1del	rs2131423939
NM_020638.3(FGF23):c.515_529del (p.Pro172_Arg176del)

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