List of variants studied for nutritional deficiency disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_001081.4(CUBN):c.6560C>T (p.Ser2187Leu)	rs143899993	0.00026
NM_015506.3(MMACHC):c.364C>A (p.His122Asn)	rs372918203	0.00012
NM_172250.3(MMAA):c.586C>T (p.Arg196Ter)	rs1029096863	0.00001
NM_000376.3(VDR):c.885C>A (p.Tyr295Ter)	rs121909792
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.305G>A (p.Gly102Glu)	rs1057520815
NM_001370658.1(BTD):c.1568A>G (p.Asp523Gly)	rs1050035768
NM_015506.3(MMACHC):c.616del (p.Arg206fs)	rs1163462384
NM_018368.4(LMBRD1):c.88T>C (p.Trp30Arg)	rs1582168492

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