ClinVar Miner

List of variants in gene MCCC1 reported as uncertain significance for 3-methylcrotonyl-CoA carboxylase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 252
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_020166.5(MCCC1):c.*6A>C rs199827064 0.00112
NM_020166.5(MCCC1):c.*45A>T rs186406584 0.00081
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_020166.5(MCCC1):c.1731+6C>A rs369754994 0.00061
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser) rs201216516 0.00049
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204 0.00049
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr) rs148332041 0.00033
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122 0.00011
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser) rs201745589 0.00010
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His) rs146689034 0.00006
NM_020166.5(MCCC1):c.1474C>T (p.His492Tyr) rs371795972 0.00006
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) rs762639338 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr) rs202192191 0.00005
NM_020166.5(MCCC1):c.230C>T (p.Ala77Val) rs776594363 0.00005
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr) rs762409158 0.00005
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 0.00004
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His) rs143892743 0.00004
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053 0.00004
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621 0.00004
NM_020166.5(MCCC1):c.1262G>A (p.Arg421Gln) rs761249521 0.00003
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) rs768011454 0.00003
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.2015A>G (p.Asp672Gly) rs992786696 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_020166.5(MCCC1):c.1226G>T (p.Arg409Leu) rs371219844 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) rs756076414 0.00002
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg) rs761480737 0.00002
NM_020166.5(MCCC1):c.262C>T (p.His88Tyr) rs778145370 0.00002
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met) rs375326791 0.00002
NM_020166.5(MCCC1):c.695G>A (p.Arg232Gln) rs148088842 0.00002
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 0.00002
NM_020166.5(MCCC1):c.*90G>A rs894828851 0.00001
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val) rs965802215 0.00001
NM_020166.5(MCCC1):c.1127C>T (p.Thr376Ile) rs1714102747 0.00001
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys) rs1333357031 0.00001
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165 0.00001
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala) rs946293038 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1268-7A>G rs1417892958 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272 0.00001
NM_020166.5(MCCC1):c.134C>T (p.Thr45Ile) rs1410294013 0.00001
NM_020166.5(MCCC1):c.135A>T (p.Thr45=) rs1286585591 0.00001
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys) rs369847846 0.00001
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe) rs727504003 0.00001
NM_020166.5(MCCC1):c.1594+6G>C rs777825199 0.00001
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001 0.00001
NM_020166.5(MCCC1):c.1682-3A>G rs760180709 0.00001
NM_020166.5(MCCC1):c.1682A>G (p.Asn561Ser) rs112307657 0.00001
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) rs749473644 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 0.00001
NM_020166.5(MCCC1):c.1928A>G (p.Gln643Arg) rs755699519 0.00001
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu) rs903196916 0.00001
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu) rs750133436 0.00001
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) rs774565207 0.00001
NM_020166.5(MCCC1):c.263A>G (p.His88Arg) rs1352224093 0.00001
NM_020166.5(MCCC1):c.283G>A (p.Ala95Thr) rs1453501166 0.00001
NM_020166.5(MCCC1):c.302C>T (p.Ala101Val) rs772547872 0.00001
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg) rs746430473 0.00001
NM_020166.5(MCCC1):c.350C>T (p.Ala117Val) rs754963220 0.00001
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val) rs780072787 0.00001
NM_020166.5(MCCC1):c.491G>A (p.Ser164Asn) rs1055095015 0.00001
NM_020166.5(MCCC1):c.492-4A>G rs908545297 0.00001
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val) rs1198116993 0.00001
NM_020166.5(MCCC1):c.619G>A (p.Val207Ile) rs149268368 0.00001
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771 0.00001
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn) rs1716633366 0.00001
NM_020166.5(MCCC1):c.739G>A (p.Glu247Lys) rs952738286 0.00001
NM_020166.5(MCCC1):c.762G>A (p.Arg254=) rs149389595 0.00001
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr) rs767642062 0.00001
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251 0.00001
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser) rs974953181 0.00001
NC_000003.11:g.(?_182733226)_(182817228_?)dup
NM_020166.4(MCCC1):c.-132C>T rs529095789
NM_020166.5(MCCC1):c.1016G>T (p.Arg339Met)
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn) rs1714478055
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala) rs1714474829
NM_020166.5(MCCC1):c.1123A>G (p.Ile375Val) rs2108479414
NM_020166.5(MCCC1):c.1134_1136dup (p.Gly379dup) rs2108479359
NM_020166.5(MCCC1):c.1139A>T (p.His380Leu)
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln) rs1714100545
NM_020166.5(MCCC1):c.1149A>C (p.Glu383Asp)
NM_020166.5(MCCC1):c.117G>A (p.Met39Ile)
NM_020166.5(MCCC1):c.1208T>G (p.Val403Gly)
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro) rs1714092180
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu) rs1577276072
NM_020166.5(MCCC1):c.1225C>G (p.Arg409Gly) rs1484347924
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn) rs1713861760
NM_020166.5(MCCC1):c.1273G>A (p.Glu425Lys)
NM_020166.5(MCCC1):c.1288T>G (p.Tyr430Asp) rs2108474014
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) rs1232970567
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1315G>T (p.Val439Leu) rs398124352
NM_020166.5(MCCC1):c.1324G>T (p.Ala442Ser)
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) rs546480708
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.1377+6T>G rs1369902442
NM_020166.5(MCCC1):c.1385G>T (p.Gly462Val) rs2108470950
NM_020166.5(MCCC1):c.139A>G (p.Arg47Gly)
NM_020166.5(MCCC1):c.1417C>G (p.Leu473Val) rs565662458
NM_020166.5(MCCC1):c.1418T>C (p.Leu473Pro)
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu) rs1560219876
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg) rs1290771044
NM_020166.5(MCCC1):c.1450G>C (p.Val484Leu)
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg) rs1713701795
NM_020166.5(MCCC1):c.1481A>T (p.Lys494Ile)
NM_020166.5(MCCC1):c.1495A>G (p.Ser499Gly)
NM_020166.5(MCCC1):c.1508C>A (p.Ala503Glu)
NM_020166.5(MCCC1):c.1517A>C (p.Glu506Ala)
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1580C>T (p.Thr527Ile)
NM_020166.5(MCCC1):c.1582C>T (p.Leu528Phe)
NM_020166.5(MCCC1):c.1594+3A>G
NM_020166.5(MCCC1):c.1619G>A (p.Ser540Asn)
NM_020166.5(MCCC1):c.1630A>G (p.Arg544Gly)
NM_020166.5(MCCC1):c.1643C>T (p.Ser548Leu)
NM_020166.5(MCCC1):c.1645T>C (p.Tyr549His)
NM_020166.5(MCCC1):c.1657A>G (p.Met553Val)
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1681+2dup
NM_020166.5(MCCC1):c.170G>A (p.Arg57Lys)
NM_020166.5(MCCC1):c.1721A>G (p.Tyr574Cys)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
NM_020166.5(MCCC1):c.1802C>T (p.Ser601Phe) rs1352360605
NM_020166.5(MCCC1):c.1843G>C (p.Glu615Gln) rs2108441391
NM_020166.5(MCCC1):c.188G>A (p.Arg63Lys) rs2108565998
NM_020166.5(MCCC1):c.1909T>G (p.Leu637Val)
NM_020166.5(MCCC1):c.1970T>C (p.Ile657Thr)
NM_020166.5(MCCC1):c.1977+4dup rs1488259395
NM_020166.5(MCCC1):c.197G>A (p.Arg66His) rs569042803
NM_020166.5(MCCC1):c.1984G>T (p.Val662Phe)
NM_020166.5(MCCC1):c.200C>T (p.Thr67Ile) rs2108565928
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr) rs1354787415
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2045T>G (p.Met682Arg)
NM_020166.5(MCCC1):c.2046G>C (p.Met682Ile)
NM_020166.5(MCCC1):c.2050-2A>G rs2108428908
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val) rs751755306
NM_020166.5(MCCC1):c.2115del (p.Asn706fs) rs2108428693
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.215G>C (p.Gly72Ala) rs761521333
NM_020166.5(MCCC1):c.223A>G (p.Thr75Ala)
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.247G>C (p.Asp83His) rs1485157465
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro) rs2108565751
NM_020166.5(MCCC1):c.260T>G (p.Met87Arg)
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr) rs1333663197
NM_020166.5(MCCC1):c.273+4T>C rs949646980
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) rs1717925328
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.301G>A (p.Ala101Thr)
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys) rs1177891822
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) rs144872258
NM_020166.5(MCCC1):c.328A>G (p.Met110Val) rs1717919066
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) rs754963220
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val) rs1367329678
NM_020166.5(MCCC1):c.365C>T (p.Ala122Val)
NM_020166.5(MCCC1):c.370-16T>G rs1716772551
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
NM_020166.5(MCCC1):c.389G>T (p.Gly130Val) rs2108528600
NM_020166.5(MCCC1):c.401A>G (p.Glu134Gly) rs2108528559
NM_020166.5(MCCC1):c.415G>A (p.Ala139Thr) rs1436217339
NM_020166.5(MCCC1):c.437G>C (p.Gly146Ala)
NM_020166.5(MCCC1):c.43G>A (p.Glu15Lys)
NM_020166.5(MCCC1):c.452G>A (p.Gly151Asp) rs2108528467
NM_020166.5(MCCC1):c.453C>T (p.Gly151=) rs1716764203
NM_020166.5(MCCC1):c.454C>T (p.Pro152Ser) rs1022408190
NM_020166.5(MCCC1):c.480G>A (p.Met160Ile)
NM_020166.5(MCCC1):c.487A>C (p.Lys163Gln) rs747747680
NM_020166.5(MCCC1):c.497C>T (p.Ser166Phe) rs2108526692
NM_020166.5(MCCC1):c.503C>A (p.Ser168Tyr) rs2108526676
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala) rs1716671130
NM_020166.5(MCCC1):c.59A>G (p.His20Arg) rs751663186
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr) rs1406515651
NM_020166.5(MCCC1):c.622C>T (p.Arg208Trp)
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.639+18_639+19insAAGATTGTGCATGCTTCCACCCCGTCCGGGAGGGAGGTGGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGTGAGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA
NM_020166.5(MCCC1):c.639+6A>T
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.649A>T (p.Ile217Phe)
NM_020166.5(MCCC1):c.68C>T (p.Pro23Leu)
NM_020166.5(MCCC1):c.700G>A (p.Glu234Lys) rs2108525897
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.730A>G (p.Met244Val) rs369227006
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser) rs149389595
NM_020166.5(MCCC1):c.763C>A (p.His255Asn) rs952365421
NM_020166.5(MCCC1):c.766G>A (p.Val256Ile)
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) rs759707763
NM_020166.5(MCCC1):c.801T>A (p.Asn267Lys)
NM_020166.5(MCCC1):c.806T>C (p.Val269Ala) rs1315920706
NM_020166.5(MCCC1):c.825C>A (p.Asp275Glu)
NM_020166.5(MCCC1):c.826T>G (p.Cys276Gly)
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly) rs1715498129
NM_020166.5(MCCC1):c.830G>A (p.Ser277Asn) rs2108505562
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly) rs1267237320
NM_020166.5(MCCC1):c.872C>A (p.Ala291Glu) rs201041864
NM_020166.5(MCCC1):c.873_873+3dup rs2108505458
NM_020166.5(MCCC1):c.880A>G (p.Ile294Val)
NM_020166.5(MCCC1):c.916G>T (p.Ala306Ser) rs1191290699
NM_020166.5(MCCC1):c.918A>C (p.Ala306=) rs1715030459
NM_020166.5(MCCC1):c.925G>A (p.Ala309Thr) rs1715029507
NM_020166.5(MCCC1):c.928G>C (p.Ala310Pro)
NM_020166.5(MCCC1):c.942T>A (p.Asn314Lys)
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.950G>T (p.Gly317Val) rs1577295874
NM_020166.5(MCCC1):c.955+6T>C
NM_020166.5(MCCC1):c.955G>A (p.Gly319Arg)
NM_020166.5(MCCC1):c.956G>A (p.Gly319Glu) rs2108486818
NM_020166.5(MCCC1):c.984A>C (p.Lys328Asn)
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207

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