List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Elsea Laboratory, Baylor College of Medicine

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser)	rs200908035	0.00035
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	rs761525156	0.00002
NM_004813.4(PEX16):c.710T>G (p.Leu237Arg)	rs753577538	0.00001
NM_000255.4(MMUT):c.1218del (p.Asn407fs)	rs1050465802
NM_000255.4(MMUT):c.188C>T (p.Thr63Ile)	rs1767776360

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