ClinVar Miner

List of variants reported as uncertain significance for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency by Illumina Clinical Services Laboratory,Illumina

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ClinVar version:
Total variants: 61
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HGVS dbSNP
NM_000255.4(MMUT):c.*103A>G rs886061558
NM_000255.4(MMUT):c.*1044T>A
NM_000255.4(MMUT):c.*1182T>C
NM_000255.4(MMUT):c.*1184T>C
NM_000255.4(MMUT):c.*1214C>A rs886061551
NM_000255.4(MMUT):c.*1252T>C rs781039564
NM_000255.4(MMUT):c.*126A>G rs192605776
NM_000255.4(MMUT):c.*1319C>T
NM_000255.4(MMUT):c.*200A>T rs886061556
NM_000255.4(MMUT):c.*257A>C rs187747098
NM_000255.4(MMUT):c.*278A>G rs182726681
NM_000255.4(MMUT):c.*281G>A
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*445A>G
NM_000255.4(MMUT):c.*465C>T rs886061555
NM_000255.4(MMUT):c.*466G>A
NM_000255.4(MMUT):c.*558A>G rs111322712
NM_000255.4(MMUT):c.*627C>T
NM_000255.4(MMUT):c.*636T>A
NM_000255.4(MMUT):c.*691T>C rs886061554
NM_000255.4(MMUT):c.*775A>G rs886061553
NM_000255.4(MMUT):c.*986G>A rs886061552
NM_000255.4(MMUT):c.-135G>T rs778890521
NM_000255.4(MMUT):c.-47G>A
NM_000255.4(MMUT):c.-78C>A rs553218776
NM_000255.4(MMUT):c.-79G>A
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
NM_000255.4(MMUT):c.1115T>C (p.Ile372Thr) rs150968643
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys)
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
NM_000255.4(MMUT):c.1614C>T (p.Thr538=) rs766999822
NM_000255.4(MMUT):c.1629C>T (p.Ser543=) rs150642856
NM_000255.4(MMUT):c.1630G>A (p.Gly544Arg)
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559
NM_000255.4(MMUT):c.168A>G (p.Pro56=)
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018
NM_000255.4(MMUT):c.1808+15T>C rs369131814
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.2022C>T (p.Leu674=) rs772652266
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr) rs147715336
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.499G>A (p.Val167Met)
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
NM_000255.4(MMUT):c.598A>G (p.Ile200Val)
NM_000255.4(MMUT):c.846A>G (p.Ala282=)
NM_000255.4(MMUT):c.876C>G (p.Leu292=)
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692

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