List of variants reported as not provided for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

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Total variants: 31

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HGVS	dbSNP	gnomAD frequency
NM_000255.4(MMUT):c.1595= (p.Arg532=)	rs1141321	0.69781
NM_000255.4(MMUT):c.636= (p.Lys212=)	rs2229384	0.41433
NM_000255.4(MMUT):c.2011= (p.Ile671=)	rs8589	0.41177
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr)	rs2229385	0.10476
NM_000255.4(MMUT):c.1992G>A (p.Ala664=)	rs144146728	0.00891
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252	0.00019
NM_000255.4(MMUT):c.1106G>A (p.Arg369His)	rs564069299	0.00005
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys)	rs772552898	0.00004
NM_000255.4(MMUT):c.278G>A (p.Arg93His)	rs121918251	0.00004
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu)	rs760782399	0.00004
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	rs121918254	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.935G>T (p.Gly312Val)	rs864309734	0.00003
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	rs121918248	0.00002
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	rs753288303	0.00001
NM_000255.4(MMUT):c.2054T>G (p.Leu685Arg)	rs864309739	0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	0.00001
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys)	rs140600746	0.00001
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter)	rs779990936	0.00001
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys)	rs864309735	0.00001
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg)	rs121918249	0.00001
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)	rs121918257	0.00001
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser)	rs864309733	0.00001
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg)	rs778702777	0.00001
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn)	rs864309736	0.00001
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser)	rs864309737
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro)	rs864309738
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)	rs761773115
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg)	rs190834116
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser)	rs121918258

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