ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 161
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HGVS dbSNP
NC_000005.10:g.(?_71626620)_(71649273_?)del
NM_020166.3(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.3(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.4(MCCC1):c.*1A>T rs115605600
NM_020166.4(MCCC1):c.*45A>T rs186406584
NM_020166.4(MCCC1):c.-100G>C rs937652
NM_020166.4(MCCC1):c.-101C>T rs886058210
NM_020166.4(MCCC1):c.-102C>A rs543130921
NM_020166.4(MCCC1):c.-132C>T rs529095789
NM_020166.4(MCCC1):c.-23C>T rs374636986
NM_020166.4(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.4(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.4(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.4(MCCC1):c.1193_1194delTG (p.Val398Glyfs) rs796051985
NM_020166.4(MCCC1):c.1222C>T (p.Pro408Ser)
NM_020166.4(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.4(MCCC1):c.1257_1263delAGTACGG (p.Val420Lysfs)
NM_020166.4(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.4(MCCC1):c.1263dup (p.Gln422Alafs) rs762463137
NM_020166.4(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.4(MCCC1):c.130_131delGCinsTT (p.Ala44Phe) rs1553868919
NM_020166.4(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.4(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.4(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.4(MCCC1):c.1339G>A (p.Ala447Thr) rs546480708
NM_020166.4(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.4(MCCC1):c.137-10T>G
NM_020166.4(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.4(MCCC1):c.1380T>G (p.Ile460Met) rs119103218
NM_020166.4(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.4(MCCC1):c.1422_1426delTGGCCinsAA (p.Gly475_His476delinsAsn)
NM_020166.4(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.4(MCCC1):c.1526delG (p.Cys509Serfs) rs727504002
NM_020166.4(MCCC1):c.1594G>C (p.Asp532His) rs119103214
NM_020166.4(MCCC1):c.1604C>T (p.Ser535Phe) rs119103216
NM_020166.4(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.4(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001
NM_020166.4(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.4(MCCC1):c.1679dup (p.Asn560Lysfs) rs1394547323
NM_020166.4(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.4(MCCC1):c.171_172delAG (p.Gly58Argfs) rs1311374961
NM_020166.4(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.4(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_020166.4(MCCC1):c.1819_1832delAGTAAAGCGAAGCT (p.Ser607Aspfs) rs1553850609
NM_020166.4(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.4(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.4(MCCC1):c.1942G>A (p.Gly648Ser)
NM_020166.4(MCCC1):c.196C>T (p.Arg66Cys) rs754460336
NM_020166.4(MCCC1):c.1973_1977+28del33 rs776641008
NM_020166.4(MCCC1):c.1A>G (p.Met1Val) rs762463914
NM_020166.4(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.4(MCCC1):c.2050-6_2050-5delCT rs780558586
NM_020166.4(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.4(MCCC1):c.2079del (p.Val694Terfs) rs119103217
NM_020166.4(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708
NM_020166.4(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.4(MCCC1):c.239G>A (p.Ser80Asn) rs774565207
NM_020166.4(MCCC1):c.295G>C (p.Gly99Arg)
NM_020166.4(MCCC1):c.343C>T (p.Gln115Ter)
NM_020166.4(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.4(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_020166.4(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.4(MCCC1):c.626G>A (p.Gly209Asp)
NM_020166.4(MCCC1):c.639+13A>G rs140342772
NM_020166.4(MCCC1):c.639+2T>A rs199914879
NM_020166.4(MCCC1):c.640-2A>G rs772395858
NM_020166.4(MCCC1):c.641G>A (p.Gly214Glu)
NM_020166.4(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.4(MCCC1):c.739_742delGAGAinsATAGCATAGC (p.Glu247_Thr582delinsIleAlaTer)
NM_020166.4(MCCC1):c.758C>T (p.Pro253Leu) rs202083272
NM_020166.4(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.4(MCCC1):c.794A>G (p.His265Arg) rs759707763
NM_020166.4(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.4(MCCC1):c.842G>A (p.Arg281Gln)
NM_020166.4(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.4(MCCC1):c.872C>T (p.Ala291Val) rs201041864
NM_020166.4(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.4(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.4(MCCC1):c.980C>G (p.Ser327Ter) rs750484977
NM_020166.4(MCCC1):c.987_988delTA (p.His329Glnfs) rs1553856095
NM_020166.4(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
NM_022132.4(MCCC2):c.*1080G>T rs7727902
NM_022132.4(MCCC2):c.*1144A>G rs886060747
NM_022132.4(MCCC2):c.*1198C>T rs277975
NM_022132.4(MCCC2):c.*1354C>T rs538509005
NM_022132.4(MCCC2):c.*1381A>C rs115650149
NM_022132.4(MCCC2):c.*1573C>G rs112693079
NM_022132.4(MCCC2):c.*245T>C rs11551918
NM_022132.4(MCCC2):c.*247C>T rs1135667
NM_022132.4(MCCC2):c.*260T>A rs886060739
NM_022132.4(MCCC2):c.*368T>C rs769233664
NM_022132.4(MCCC2):c.*526C>T rs181669670
NM_022132.4(MCCC2):c.*565C>A rs565365607
NM_022132.4(MCCC2):c.*577T>A rs150412501
NM_022132.4(MCCC2):c.*593G>T rs60069076
NM_022132.4(MCCC2):c.*659C>T rs886060740
NM_022132.4(MCCC2):c.*699T>C rs886060741
NM_022132.4(MCCC2):c.*719delA rs886060742
NM_022132.4(MCCC2):c.*725C>T rs370508668
NM_022132.4(MCCC2):c.*819G>A rs565662004
NM_022132.4(MCCC2):c.*839T>C rs886060743
NM_022132.4(MCCC2):c.*856C>T rs886060744
NM_022132.4(MCCC2):c.*878T>G rs886060745
NM_022132.4(MCCC2):c.*940C>G rs886060746
NM_022132.4(MCCC2):c.-38G>A rs186132078
NM_022132.4(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.4(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.4(MCCC2):c.1216+2T>C rs1554138265
NM_022132.4(MCCC2):c.1235A>C (p.Glu412Ala)
NM_022132.4(MCCC2):c.1273A>G (p.Met425Val) rs766591766
NM_022132.4(MCCC2):c.1282G>A (p.Ala428Thr)
NM_022132.4(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.4(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val) rs1554138479
NM_022132.4(MCCC2):c.1368A>G (p.Ala456=) rs10064079
NM_022132.4(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718
NM_022132.4(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.4(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.4(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
NM_022132.4(MCCC2):c.1504G>C (p.Glu502Gln)
NM_022132.4(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.4(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.4(MCCC2):c.1574+1G>A rs730880265
NM_022132.4(MCCC2):c.1635dup (p.Ser546Terfs) rs768272570
NM_022132.4(MCCC2):c.1640C>T (p.Ala547Val) rs778172446
NM_022132.4(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.4(MCCC2):c.1690T>C (p.Ter564Gln)
NM_022132.4(MCCC2):c.295G>A (p.Glu99Lys) rs119103219
NM_022132.4(MCCC2):c.295G>C (p.Glu99Gln) rs119103219
NM_022132.4(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.4(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
NM_022132.4(MCCC2):c.463C>T (p.Arg155Trp)
NM_022132.4(MCCC2):c.464G>A (p.Arg155Gln) rs119103220
NM_022132.4(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.4(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.4(MCCC2):c.511+7dup rs200382661
NM_022132.4(MCCC2):c.517dupT (p.Ser173Phefs) rs587776533
NM_022132.4(MCCC2):c.539G>A (p.Arg180Gln)
NM_022132.4(MCCC2):c.568C>T (p.His190Tyr) rs773774134
NM_022132.4(MCCC2):c.569A>G (p.His190Arg) rs119103225
NM_022132.4(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.4(MCCC2):c.615T>G (p.Asn205Lys) rs368906147
NM_022132.4(MCCC2):c.653C>T (p.Ala218Val)
NM_022132.4(MCCC2):c.665A>G (p.Tyr222Cys) rs753735697
NM_022132.4(MCCC2):c.675C>A (p.Ala225=) rs781610298
NM_022132.4(MCCC2):c.688A>G (p.Asn230Asp)
NM_022132.4(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.4(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_022132.4(MCCC2):c.735dup (p.Val247Glyfs)
NM_022132.4(MCCC2):c.798T>C (p.His266=) rs932586663
NM_022132.4(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.4(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226
NM_022132.4(MCCC2):c.904-12A>G rs277984
NM_022132.4(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.4(MCCC2):c.969T>C (p.Ala323=) rs112793062
NM_022132.4(MCCC2):c.987dup (p.Asp330Terfs) rs1554137532
NM_022132.4(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_022132.4(MCCC2):c.999G>T (p.Glu333Asp)
NM_022132.5(MCCC2):c.1407dup (p.Ile470Tyrfs)

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