List of variants reported as likely pathogenic for Methylmalonic acidemia

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	rs147715336	0.00011
NM_000255.4(MMUT):c.753+1G>A	rs1028877309	0.00001
NM_052845.4(MMAB):c.584G>A (p.Arg195His)	rs756195708	0.00001
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)	rs1297307718
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)	rs1369724342
NM_000255.4(MMUT):c.1946del (p.Pro649fs)	rs1554158754
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)	rs557884699
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)	rs864309512
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)	rs1553957931
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)	rs864309730

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