ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase deficiency by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP
NM_001293273.1(MCCC1):c.-192G>C rs937652
NM_001293273.1(MCCC1):c.-193C>T rs886058210
NM_001293273.1(MCCC1):c.-194C>A rs543130921
NM_001293273.1(MCCC1):c.-224C>T rs529095789
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.*45A>T rs186406584
NM_020166.5(MCCC1):c.*6A>C
NM_020166.5(MCCC1):c.*90G>A
NM_020166.5(MCCC1):c.-23C>T rs374636986
NM_020166.5(MCCC1):c.-24A>G rs11540930
NM_020166.5(MCCC1):c.-25C>A rs149741951
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.130G>T (p.Ala44Ser)
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.144C>T (p.Asn48=)
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr)
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=)
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.197G>A (p.Arg66His)
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
NM_022132.5(MCCC2):c.*1080G>T rs7727902
NM_022132.5(MCCC2):c.*1144A>G rs886060747
NM_022132.5(MCCC2):c.*1198C>T rs277975
NM_022132.5(MCCC2):c.*1243G>C
NM_022132.5(MCCC2):c.*1272A>G
NM_022132.5(MCCC2):c.*1297G>A
NM_022132.5(MCCC2):c.*1351G>A
NM_022132.5(MCCC2):c.*1354C>T rs538509005
NM_022132.5(MCCC2):c.*1381A>C rs115650149
NM_022132.5(MCCC2):c.*1466T>C
NM_022132.5(MCCC2):c.*1539G>T
NM_022132.5(MCCC2):c.*1573C>G rs112693079
NM_022132.5(MCCC2):c.*1591A>C
NM_022132.5(MCCC2):c.*1649C>T
NM_022132.5(MCCC2):c.*1650G>A
NM_022132.5(MCCC2):c.*16T>A
NM_022132.5(MCCC2):c.*191A>T
NM_022132.5(MCCC2):c.*245T>C rs11551918
NM_022132.5(MCCC2):c.*246A>G
NM_022132.5(MCCC2):c.*247C>T rs1135667
NM_022132.5(MCCC2):c.*260T>A rs886060739
NM_022132.5(MCCC2):c.*368T>C rs769233664
NM_022132.5(MCCC2):c.*378T>A
NM_022132.5(MCCC2):c.*526C>T rs181669670
NM_022132.5(MCCC2):c.*548C>T
NM_022132.5(MCCC2):c.*552C>T
NM_022132.5(MCCC2):c.*565C>A rs565365607
NM_022132.5(MCCC2):c.*577T>A rs150412501
NM_022132.5(MCCC2):c.*593G>T rs60069076
NM_022132.5(MCCC2):c.*659C>T rs886060740
NM_022132.5(MCCC2):c.*699T>C rs886060741
NM_022132.5(MCCC2):c.*700G>T
NM_022132.5(MCCC2):c.*714G>A
NM_022132.5(MCCC2):c.*719A>G
NM_022132.5(MCCC2):c.*719del rs886060742
NM_022132.5(MCCC2):c.*725C>T rs370508668
NM_022132.5(MCCC2):c.*773C>T
NM_022132.5(MCCC2):c.*819G>A rs565662004
NM_022132.5(MCCC2):c.*839T>C rs886060743
NM_022132.5(MCCC2):c.*843A>C
NM_022132.5(MCCC2):c.*856C>T rs886060744
NM_022132.5(MCCC2):c.*878T>G rs886060745
NM_022132.5(MCCC2):c.*940C>G rs886060746
NM_022132.5(MCCC2):c.*941A>G
NM_022132.5(MCCC2):c.*970G>A
NM_022132.5(MCCC2):c.-38G>A rs186132078
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1217-7C>G rs148369119
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile)
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly)
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) rs1561848250
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.1569C>T (p.Ser523=)
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+5G>A
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly)
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.330C>T (p.Asp110=) rs201872484
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val)
NM_022132.5(MCCC2):c.383+4A>G
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser)
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133
NM_022132.5(MCCC2):c.904-12A>G rs277984
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)

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.