List of variants reported as pathogenic for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 29

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252	0.00021
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	rs564069299	0.00006
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter)	rs727504020	0.00005
NM_000255.4(MMUT):c.278G>A (p.Arg93His)	rs121918251	0.00004
NM_000255.4(MMUT):c.280G>A (p.Gly94Arg)	rs727504022	0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	rs760782399	0.00004
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter)	rs761477436	0.00004
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter)	rs774159791	0.00003
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu)	rs143023066	0.00003
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr)	rs121918256	0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	rs398123278	0.00003
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	rs753288303	0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	rs765284825	0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	rs779990936	0.00001
NM_000255.4(MMUT):c.281G>T (p.Gly94Val)	rs535411418	0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)	rs121918257	0.00001
NM_000255.4(MMUT):c.323G>A (p.Arg108His)	rs483352778	0.00001
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter)	rs780068818	0.00001
NM_000255.4(MMUT):c.753+1G>A	rs1028877309	0.00001
NM_000255.4(MMUT):c.1332+1del	rs771542321
NM_000255.4(MMUT):c.1956+2T>C	rs750619189
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter)	rs879253848
NM_000255.4(MMUT):c.312del (p.Trp105fs)	rs1064793768
NM_000255.4(MMUT):c.360dup (p.Lys121Ter)	rs1554160919
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	rs1554160638
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter)	rs879253834
NM_000255.4(MMUT):c.753+2T>A	rs796052006
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter)	rs879253824
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr)	rs780387525

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