List of variants studied for nutritional disorder by Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)	rs146136265	0.00024
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_000069.3(CACNA1S):c.4034C>A (p.Ala1345Asp)
NM_000334.4(SCN4A):c.2903C>A (p.Ala968Asp)	rs757322725
NM_001352514.2(HLCS):c.2551G>A (p.Val851Ile)
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_006267.5(RANBP2):c.2415A>C (p.Glu805Asp)	rs1022223760
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)	rs200895671
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)	rs749521854
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)	rs754545360

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