List of variants in gene MMUT studied for Methylmalonic acidemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 65

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000255.3(MMUT):c.-198A>T	rs3729619	0.37031
NM_000255.4(MMUT):c.*1107dup	rs71777574	0.35787
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val)	rs121918252	0.00021
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)	rs147715336	0.00011
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.1105C>T (p.Arg369Cys)	rs772552898	0.00004
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.1677-1G>A	rs754369323	0.00003
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg)	rs121918254	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.682C>T (p.Arg228Ter)	rs200596762	0.00003
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)	rs398123278	0.00003
NM_000255.4(MMUT):c.1084-10A>G	rs777031588	0.00002
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)	rs761525156	0.00002
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter)	rs1238694184	0.00002
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter)	rs121918248	0.00002
NM_000255.4(MMUT):c.1083+2T>A	rs746085723	0.00001
NM_000255.4(MMUT):c.1276G>A (p.Gly426Arg)	rs769922244	0.00001
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp)	rs753288303	0.00001
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter)	rs1346775255	0.00001
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter)	rs887126161	0.00001
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter)	rs764173488	0.00001
NM_000255.4(MMUT):c.1560+1G>T	rs200019422	0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys)	rs765284825	0.00001
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp)	rs777758903	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.313T>C (p.Trp105Arg)	rs121918249	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.607G>A (p.Gly203Arg)	rs778702777	0.00001
NM_000255.4(MMUT):c.753+1G>A	rs1028877309	0.00001
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe)	rs796052002	0.00001
NM_000255.4(MMUT):c.*162A>C	rs886061557
NM_000255.4(MMUT):c.*201del	rs10713340
NM_000255.4(MMUT):c.-155del	rs886061562
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)	rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter)	rs770466993
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)	rs1227030642
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)	rs1297307718
NM_000255.4(MMUT):c.1630_1631delinsTA (p.Gly544Ter)	rs796052008
NM_000255.4(MMUT):c.1658del (p.Val553fs)	rs2127415956
NM_000255.4(MMUT):c.1677-1G>C	rs754369323
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)	rs1369724342
NM_000255.4(MMUT):c.1946del (p.Pro649fs)	rs1554158754
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter)	rs761773115
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)
NM_000255.4(MMUT):c.2098_2099del (p.Met700fs)	rs1767096752
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs)	rs879253851
NM_000255.4(MMUT):c.421del (p.Ala141fs)	rs1767738752
NM_000255.4(MMUT):c.544dup (p.Met182fs)
NM_000255.4(MMUT):c.670G>T (p.Glu224Ter)	rs1554160638
NM_000255.4(MMUT):c.671_678dup (p.Val227fs)	rs758008398
NM_000255.4(MMUT):c.729_730insTT (p.Asp244fs)	rs780283588
NM_000255.4(MMUT):c.753+2T>A	rs796052006
NM_000255.4(MMUT):c.862T>C (p.Ser288Pro)	rs1179778233

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.