List of variants studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Pathology and Clinical Laboratory Medicine, King Fahad Medical City

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.278G>A (p.Arg93His)	rs121918251	0.00004
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_000255.4(MMUT):c.1445-1G>C	rs1226722287
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter)	rs879253852
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys)	rs796052005
NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)	rs1767682543

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