ClinVar Miner

List of variants in gene MMUT studied for Methylmalonic acidemia

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Gene type:
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Total variants: 61
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HGVS dbSNP
NM_000255.3(MMUT):c.-198A>T rs3729619
NM_000255.4(MMUT):c.*101G>A rs113025987
NM_000255.4(MMUT):c.*103A>G rs886061558
NM_000255.4(MMUT):c.*1107dup rs71777574
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.*1326G>A rs9381784
NM_000255.4(MMUT):c.*162A>C rs886061557
NM_000255.4(MMUT):c.*200A>T rs886061556
NM_000255.4(MMUT):c.*201del rs10713340
NM_000255.4(MMUT):c.*257A>C rs187747098
NM_000255.4(MMUT):c.*278A>G rs182726681
NM_000255.4(MMUT):c.*43G>T rs868855862
NM_000255.4(MMUT):c.*465C>T rs886061555
NM_000255.4(MMUT):c.*558A>G rs111322712
NM_000255.4(MMUT):c.*580A>G rs11757098
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.-155del rs886061562
NM_000255.4(MMUT):c.-78C>A rs553218776
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1083+2T>A rs746085723
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.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
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.1669C>T (p.Arg557Trp) rs886061559
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018
NM_000255.4(MMUT):c.1808+15T>C rs369131814
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
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.572C>A (p.Ala191Glu) rs760782399
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs) rs780283588
NM_000255.4(MMUT):c.753+1G>A rs1028877309
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436
NM_000255.4(MMUT):c.87G>A (p.Gln29=) rs886061560
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002

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