ClinVar Miner

List of variants in gene MMUT studied for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 285
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HGVS dbSNP
NC_000006.11:g.(?_49407899)_(49427199_?)dup
NC_000006.12:g.(?_49447660)_(49459506_?)del
NC_000006.12:g.(?_49456070)_(49456247_?)del
NM_000255.3(MMUT):c.322C>T rs121918257
NM_000255.3(MMUT):c.[1891delG];[322C>T]
NM_000255.4(MMUT):c.*101G>A rs113025987
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.*1326G>A rs9381784
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.*34A>G
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.*580A>G rs11757098
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.-35G>T rs483352795
NM_000255.4(MMUT):c.-39-1G>A rs879253822
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.1007del (p.Met336fs) rs1064796328
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu) rs1581831934
NM_000255.4(MMUT):c.1022dup (p.Asn341fs) rs752898811
NM_000255.4(MMUT):c.1025C>A (p.Ser342Ter) rs770466993
NM_000255.4(MMUT):c.1032_1034TCT[2] (p.Leu347del) rs765373403
NM_000255.4(MMUT):c.1040T>G (p.Leu347Arg) rs1026703654
NM_000255.4(MMUT):c.1041A>G (p.Leu347=) rs1454849970
NM_000255.4(MMUT):c.1083+1G>A rs1554160198
NM_000255.4(MMUT):c.1084-10A>G rs777031588
NM_000255.4(MMUT):c.1084-1G>A rs879253838
NM_000255.4(MMUT):c.1084-1G>C rs879253838
NM_000255.4(MMUT):c.1084-2A>G rs879253839
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
NM_000255.4(MMUT):c.1092_1114del (p.Asn365fs) rs1476515561
NM_000255.4(MMUT):c.1097A>G (p.Asn366Ser) rs864309737
NM_000255.4(MMUT):c.1105C>T (p.Arg369Cys) rs772552898
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299
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.1126_1127del (p.Ala376fs) rs1554159950
NM_000255.4(MMUT):c.1142G>T (p.Gly381Val) rs1554159942
NM_000255.4(MMUT):c.1148dup (p.Ser384fs) rs771021560
NM_000255.4(MMUT):c.1156C>A (p.His386Asn) rs1554159937
NM_000255.4(MMUT):c.1164T>A (p.Asn388Lys) rs879253840
NM_000255.4(MMUT):c.1181dup (p.Leu394fs) rs879253841
NM_000255.4(MMUT):c.1194_1195TG[1] (p.Val399fs) rs1227030642
NM_000255.4(MMUT):c.1207C>G (p.Arg403Gly) rs727504020
NM_000255.4(MMUT):c.1207C>T (p.Arg403Ter) rs727504020
NM_000255.4(MMUT):c.1208G>A (p.Arg403Gln) rs774457503
NM_000255.4(MMUT):c.1219A>T (p.Asn407Tyr) rs576536579
NM_000255.4(MMUT):c.1271C>T (p.Pro424Leu) rs879253842
NM_000255.4(MMUT):c.1277G>A (p.Gly426Glu) rs533755473
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1287C>G (p.Tyr429Ter) rs1346775255
NM_000255.4(MMUT):c.129G>A (p.Trp43Ter) rs879253825
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp) rs1581829908
NM_000255.4(MMUT):c.1324G>C (p.Ala442Pro) rs1554159871
NM_000255.4(MMUT):c.1332+1del rs771542321
NM_000255.4(MMUT):c.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1333-20_1333-9del rs879253843
NM_000255.4(MMUT):c.1333-8C>T rs199555550
NM_000255.4(MMUT):c.1351G>T (p.Glu451Ter) rs768608311
NM_000255.4(MMUT):c.1355T>A (p.Met452Lys) rs760718889
NM_000255.4(MMUT):c.1399C>T (p.Arg467Ter) rs774159791
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
NM_000255.4(MMUT):c.1420C>T (p.Arg474Ter) rs887126161
NM_000255.4(MMUT):c.1421G>A (p.Arg474Gln) rs368746965
NM_000255.4(MMUT):c.1429G>A (p.Ala477Thr) rs1581828004
NM_000255.4(MMUT):c.1441del (p.Ser481fs)
NM_000255.4(MMUT):c.1465G>A (p.Val489Ile)
NM_000255.4(MMUT):c.1476C>T (p.Tyr492=) rs779301267
NM_000255.4(MMUT):c.1481T>A (p.Leu494Ter) rs764173488
NM_000255.4(MMUT):c.1489G>T (p.Glu497Ter) rs879253844
NM_000255.4(MMUT):c.1494C>T (p.Asp498=) rs752651149
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000255.4(MMUT):c.1512A>G (p.Ala504=) rs762792688
NM_000255.4(MMUT):c.1515T>C (p.Ile505=) rs772936850
NM_000255.4(MMUT):c.1519A>G (p.Asn507Asp)
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter) rs761525156
NM_000255.4(MMUT):c.1553T>C (p.Leu518Pro) rs864309738
NM_000255.4(MMUT):c.1560+1G>T rs200019422
NM_000255.4(MMUT):c.1595= (p.Arg532=) rs1141321
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321
NM_000255.4(MMUT):c.160A>T (p.Lys54Ter) rs1554161054
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.1630_1631delinsTA (p.Gly544Ter) rs796052008
NM_000255.4(MMUT):c.1650T>C (p.Ala550=) rs1356683206
NM_000255.4(MMUT):c.1655C>T (p.Ala552Val) rs879253845
NM_000255.4(MMUT):c.1663G>A (p.Ala555Thr) rs753564352
NM_000255.4(MMUT):c.1669C>T (p.Arg557Trp) rs886061559
NM_000255.4(MMUT):c.1676+77A>C rs9381786
NM_000255.4(MMUT):c.1677-1G>A rs754369323
NM_000255.4(MMUT):c.1677-1G>C rs754369323
NM_000255.4(MMUT):c.1677_1747dup (p.Val583Aspfs)
NM_000255.4(MMUT):c.1679G>A (p.Cys560Tyr) rs1238333040
NM_000255.4(MMUT):c.168A>G (p.Pro56=)
NM_000255.4(MMUT):c.1718T>C (p.Phe573Ser) rs775593146
NM_000255.4(MMUT):c.1741C>T (p.Arg581Ter) rs1238694184
NM_000255.4(MMUT):c.1762C>T (p.Arg588Cys) rs140727018
NM_000255.4(MMUT):c.1765C>T (p.Gln589Ter)
NM_000255.4(MMUT):c.1777G>C (p.Glu593Gln) rs148285323
NM_000255.4(MMUT):c.1777G>T (p.Glu593Ter) rs148285323
NM_000255.4(MMUT):c.1790T>G (p.Ile597Arg) rs1554158951
NM_000255.4(MMUT):c.1808+15T>C rs369131814
NM_000255.4(MMUT):c.1809G>T (p.Arg603Ser)
NM_000255.4(MMUT):c.1844C>G (p.Pro615Arg) rs1554158777
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825
NM_000255.4(MMUT):c.1849_1851CTT[1] (p.Leu618del) rs398123277
NM_000255.4(MMUT):c.1850T>G (p.Leu617Arg) rs1554158775
NM_000255.4(MMUT):c.1853T>C (p.Leu618Pro) rs879253846
NM_000255.4(MMUT):c.1865T>C (p.Met622Thr) rs201536536
NM_000255.4(MMUT):c.1867G>A (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1867G>C (p.Gly623Arg) rs121918254
NM_000255.4(MMUT):c.1874A>C (p.Asp625Ala)
NM_000255.4(MMUT):c.1874A>G (p.Asp625Gly) rs879253847
NM_000255.4(MMUT):c.1877_1889del (p.Gly626fs)
NM_000255.4(MMUT):c.1880A>G (p.His627Arg) rs372486357
NM_000255.4(MMUT):c.1885dup (p.Arg629fs) rs1561952122
NM_000255.4(MMUT):c.1889G>A (p.Gly630Glu) rs143023066
NM_000255.4(MMUT):c.189C>A (p.Thr63=) rs777167901
NM_000255.4(MMUT):c.191C>T (p.Pro64Leu) rs575038087
NM_000255.4(MMUT):c.1924G>C (p.Gly642Arg) rs747897332
NM_000255.4(MMUT):c.1946del (p.Pro649fs) rs1554158754
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.1957-2A>G rs1554158379
NM_000255.4(MMUT):c.1957-899A>G
NM_000255.4(MMUT):c.1957-9A>T rs550694604
NM_000255.4(MMUT):c.1962_1963del (p.Pro654_Arg655insTer) rs1554158377
NM_000255.4(MMUT):c.1963C>T (p.Arg655Cys)
NM_000255.4(MMUT):c.1975C>T (p.Gln659Ter) rs879253848
NM_000255.4(MMUT):c.1990del (p.Ala664fs) rs1554158372
NM_000255.4(MMUT):c.1991C>T (p.Ala664Val) rs137958217
NM_000255.4(MMUT):c.1992G>A (p.Ala664=) rs144146728
NM_000255.4(MMUT):c.1993G>A (p.Asp665Asn)
NM_000255.4(MMUT):c.19C>T (p.Gln7Ter) rs761773115
NM_000255.4(MMUT):c.2011= (p.Ile671=) rs8589
NM_000255.4(MMUT):c.2011A>G (p.Ile671Val) rs8589
NM_000255.4(MMUT):c.2020C>G (p.Leu674Val) rs1164271240
NM_000255.4(MMUT):c.2020C>T (p.Leu674Phe) rs1164271240
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.2054T>G (p.Leu685Arg) rs864309739
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556
NM_000255.4(MMUT):c.2078del (p.Gly693fs) rs879253849
NM_000255.4(MMUT):c.2080C>T (p.Arg694Trp) rs777758903
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830
NM_000255.4(MMUT):c.2099T>A (p.Met700Lys) rs140600746
NM_000255.4(MMUT):c.2106del (p.Gly703_Val704insTer) rs1554158325
NM_000255.4(MMUT):c.2114T>G (p.Ile705Arg) rs772888575
NM_000255.4(MMUT):c.2125-2A>G rs1561948924
NM_000255.4(MMUT):c.2125-3C>G rs1581815342
NM_000255.4(MMUT):c.2131G>T (p.Glu711Ter) rs776176938
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.2179C>T (p.Arg727Ter) rs779990936
NM_000255.4(MMUT):c.2193_2196dup (p.Val733fs) rs879253850
NM_000255.4(MMUT):c.2194_2197delinsTGGAA (p.Ala732fs) rs879253851
NM_000255.4(MMUT):c.2196C>T (p.Ala732=) rs201963242
NM_000255.4(MMUT):c.2197G>A (p.Val733Ile) rs1183369398
NM_000255.4(MMUT):c.2200C>T (p.Gln734Ter) rs879253852
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe) rs753461919
NM_000255.4(MMUT):c.2250A>T (p.Val750=) rs774736275
NM_000255.4(MMUT):c.257C>T (p.Pro86Leu) rs769348060
NM_000255.4(MMUT):c.260G>A (p.Gly87Glu) rs1554160986
NM_000255.4(MMUT):c.277C>A (p.Arg93Ser) rs746274670
NM_000255.4(MMUT):c.277C>T (p.Arg93Cys) rs746274670
NM_000255.4(MMUT):c.278G>A (p.Arg93His) rs121918251
NM_000255.4(MMUT):c.281G>T (p.Gly94Val) rs535411418
NM_000255.4(MMUT):c.284C>G (p.Pro95Arg) rs190834116
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu) rs190834116
NM_000255.4(MMUT):c.285A>G (p.Pro95=) rs113008304
NM_000255.4(MMUT):c.292A>C (p.Thr98Pro) rs754740382
NM_000255.4(MMUT):c.299A>G (p.Tyr100Cys) rs864309735
NM_000255.4(MMUT):c.29dup (p.Leu10fs) rs1437477079
NM_000255.4(MMUT):c.2T>C (p.Met1Thr) rs879253820
NM_000255.4(MMUT):c.30dup (p.Leu11fs) rs879253821
NM_000255.4(MMUT):c.312del (p.Trp105fs) rs1064793768
NM_000255.4(MMUT):c.313T>C (p.Trp105Arg) rs121918249
NM_000255.4(MMUT):c.321C>T (p.Ile107=) rs570459486
NM_000255.4(MMUT):c.322del (p.Arg108fs)
NM_000255.4(MMUT):c.323G>A (p.Arg108His) rs483352778
NM_000255.4(MMUT):c.329A>G (p.Tyr110Cys) rs796052005
NM_000255.4(MMUT):c.330T>G (p.Tyr110Ter) rs879253826
NM_000255.4(MMUT):c.349G>T (p.Glu117Ter) rs121918253
NM_000255.4(MMUT):c.360dup (p.Lys121Ter) rs1554160919
NM_000255.4(MMUT):c.378C>A (p.Asn126Lys) rs879253827
NM_000255.4(MMUT):c.385+2T>C rs1192889987
NM_000255.4(MMUT):c.385+5G>A rs1460509686
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu) rs1057518979
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249
NM_000255.4(MMUT):c.394C>T (p.Gln132Ter) rs1554160743
NM_000255.4(MMUT):c.395A>T (p.Gln132Leu) rs766605891
NM_000255.4(MMUT):c.397G>A (p.Gly133Arg) rs879253828
NM_000255.4(MMUT):c.406G>A (p.Val136Ile)
NM_000255.4(MMUT):c.415G>A (p.Asp139Asn) rs879253829
NM_000255.4(MMUT):c.41A>T (p.His14Leu) rs886061561
NM_000255.4(MMUT):c.421G>A (p.Ala141Thr) rs1554160730
NM_000255.4(MMUT):c.454C>T (p.Arg152Ter) rs780068818
NM_000255.4(MMUT):c.461G>A (p.Arg154His) rs142068898
NM_000255.4(MMUT):c.467A>T (p.Asp156Val) rs757000253
NM_000255.4(MMUT):c.499G>A (p.Val167Met)
NM_000255.4(MMUT):c.514del (p.Ile172fs)
NM_000255.4(MMUT):c.521T>C (p.Phe174Ser) rs864309733
NM_000255.4(MMUT):c.52C>T (p.Gln18Ter) rs121918248
NM_000255.4(MMUT):c.556A>G (p.Met186Val) rs148331800
NM_000255.4(MMUT):c.55dup (p.Val19fs) rs879253823
NM_000255.4(MMUT):c.560C>G (p.Thr187Ser) rs879253830
NM_000255.4(MMUT):c.566A>G (p.Asn189Ser) rs200908035
NM_000255.4(MMUT):c.566A>T (p.Asn189Ile) rs200908035
NM_000255.4(MMUT):c.572C>A (p.Ala191Glu) rs760782399
NM_000255.4(MMUT):c.572C>T (p.Ala191Val)
NM_000255.4(MMUT):c.598A>G (p.Ile200Val)
NM_000255.4(MMUT):c.607G>A (p.Gly203Arg) rs778702777
NM_000255.4(MMUT):c.610_612GAA[1] (p.Glu205del) rs879253831
NM_000255.4(MMUT):c.622del (p.Val208fs) rs1581834906
NM_000255.4(MMUT):c.630del (p.Glu211fs) rs879253832
NM_000255.4(MMUT):c.636= (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.636G>A (p.Lys212=) rs2229384
NM_000255.4(MMUT):c.643G>A (p.Gly215Ser) rs121918258
NM_000255.4(MMUT):c.643G>T (p.Gly215Cys) rs121918258
NM_000255.4(MMUT):c.647C>A (p.Thr216Asn) rs1554160650
NM_000255.4(MMUT):c.653A>G (p.Gln218Arg) rs869320653
NM_000255.4(MMUT):c.654A>C (p.Gln218His) rs1446389693
NM_000255.4(MMUT):c.655A>T (p.Asn219Tyr) rs121918256
NM_000255.4(MMUT):c.656A>G (p.Asn219Ser) rs950211877
NM_000255.4(MMUT):c.669_674dup (p.Phe225_Met226insLeuGlu) rs1554160637
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.682C>T (p.Arg228Ter) rs200596762
NM_000255.4(MMUT):c.689C>G (p.Thr230Arg) rs879253833
NM_000255.4(MMUT):c.691T>A (p.Tyr231Asn) rs864309736
NM_000255.4(MMUT):c.692dup (p.Tyr231Ter) rs747777227
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000255.4(MMUT):c.694_700delinsCTTTTTT (p.Ile232_Pro234delinsLeuPheSer) rs1581834738
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.744T>C (p.Tyr248=) rs754257532
NM_000255.4(MMUT):c.753+2T>A rs796052006
NM_000255.4(MMUT):c.754-2A>G rs1405705785
NM_000255.4(MMUT):c.754-7del rs750770186
NM_000255.4(MMUT):c.806C>T (p.Ala269Val) rs767593892
NM_000255.4(MMUT):c.828G>C (p.Glu276Asp) rs12175488
NM_000255.4(MMUT):c.836A>G (p.Tyr279Cys) rs2228282
NM_000255.4(MMUT):c.846A>G (p.Ala282=)
NM_000255.4(MMUT):c.850G>A (p.Gly284Arg) rs761477436
NM_000255.4(MMUT):c.850G>T (p.Gly284Ter) rs761477436
NM_000255.4(MMUT):c.851G>A (p.Gly284Glu) rs879253835
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.88C>T (p.Gln30Ter) rs879253824
NM_000255.4(MMUT):c.890C>T (p.Thr297Ile) rs547709692
NM_000255.4(MMUT):c.911G>A (p.Arg304Lys)
NM_000255.4(MMUT):c.912-1G>A rs1561957527
NM_000255.4(MMUT):c.914T>C (p.Leu305Ser) rs1554160246
NM_000255.4(MMUT):c.915_920del (p.Leu305_Ser306del) rs1561957516
NM_000255.4(MMUT):c.917C>T (p.Ser306Phe) rs1085307929
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter) rs398123278
NM_000255.4(MMUT):c.927G>A (p.Trp309Ter) rs879253836
NM_000255.4(MMUT):c.935G>T (p.Gly312Val) rs864309734
NM_000255.4(MMUT):c.947A>G (p.Tyr316Cys) rs781474200
NM_000255.4(MMUT):c.959C>T (p.Ala320Val) rs1581832011
NM_000255.4(MMUT):c.970G>A (p.Ala324Thr) rs780387525
NM_000255.4(MMUT):c.974G>A (p.Gly325Asp) rs879253837
NM_000255.4(MMUT):c.977G>A (p.Arg326Lys) rs758577372
NM_000255.4(MMUT):c.982C>T (p.Leu328Phe) rs796052002
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro) rs965316043

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