List of variants studied for disorder of metabolite absorption and transport by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_080669.6(SLC46A1):c.329G>A (p.Ser110Asn)	rs201076728	0.00020
NM_000410.4(HFE):c.670C>T (p.Arg224Trp)	rs144797937	0.00013
NM_014585.6(SLC40A1):c.1606A>T (p.Ile536Phe)	rs910343037	0.00008
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_000053.4(ATP7B):c.3443T>C (p.Ile1148Thr)	rs60431989	0.00004
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)	rs121917882	0.00002
NM_000053.4(ATP7B):c.2987del (p.Met996fs)	rs2139054241
NM_000096.4(CP):c.1036+15C>T
NM_005142.3(CBLIF):c.183_186del (p.Met61fs)	rs765896727
NM_005142.3(CBLIF):c.370+1G>C
NM_005334.3(HCFC1):c.2376C>G (p.Ile792Met)
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)	rs749521854
NM_017662.5(TRPM6):c.5735A>G (p.Tyr1912Cys)
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)	rs754545360

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