ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase deficiency by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 207
Download table as spreadsheet
HGVS dbSNP
NC_000003.12:g.(?_183052139)_(183052260_?)del
NC_000003.12:g.(?_183070989)_(183072497_?)del
NC_000003.12:g.(?_183092389)_(183092565_?)del
NC_000003.12:g.(?_183092399)_(183094615_?)dup
NC_000005.10:g.(?_71587406)_(71656880_?)del
NC_000005.10:g.(?_71599649)_(71599770_?)del
NC_000005.10:g.(?_71626620)_(71649273_?)del
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1191_1192TG[1] (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1210dup (p.His404fs)
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-1G>A
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val)
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) rs546480708
NM_020166.5(MCCC1):c.136+7A>G rs559629034
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=)
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe)
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs)
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
NM_020166.5(MCCC1):c.1595-1G>C
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=)
NM_020166.5(MCCC1):c.169_170AG[1] (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1732-1G>T
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=)
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=)
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
NM_020166.5(MCCC1):c.294C>T (p.Ile98=)
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
NM_020166.5(MCCC1):c.678A>G (p.Glu226=)
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly)
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004
NM_020166.5(MCCC1):c.704del (p.Ala235fs)
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272
NM_020166.5(MCCC1):c.81G>A (p.Leu27=)
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly)
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.89+1G>C
NM_020166.5(MCCC1):c.90-1G>C
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=)
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
NM_022132.5(MCCC2):c.114C>G (p.Gly38=)
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.1217-7C>G rs148369119
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.125A>G (p.Tyr42Cys)
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=)
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378
NM_022132.5(MCCC2):c.129G>A (p.Gln43=)
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1313C>A (p.Thr438Asn)
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1374-10C>T
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.5(MCCC2):c.1488+10G>A rs190514867
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=)
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1565C>T (p.Ser522Phe)
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=)
NM_022132.5(MCCC2):c.1574+1G>A rs730880265
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.162T>C (p.Asn54=)
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1640C>T (p.Ala547Val) rs778172446
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792
NM_022132.5(MCCC2):c.226A>T (p.Ile76Leu)
NM_022132.5(MCCC2):c.281+1G>T
NM_022132.5(MCCC2):c.282-7G>A rs115078899
NM_022132.5(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.5(MCCC2):c.450G>C (p.Val150=)
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys)
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter)
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.5(MCCC2):c.581del (p.Thr194fs)
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191
NM_022132.5(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.738+9A>G rs776559643
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs)
NM_022132.5(MCCC2):c.90G>T (p.Ser30=)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.969T>C (p.Ala323=) rs112793062
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_022132.5(MCCC2):c.999G>T (p.Glu333Asp) rs1487531101

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.