ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 123
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_022132.5(MCCC2):c.*1243G>C rs7731970 0.80030
NM_022132.5(MCCC2):c.*247C>T rs1135667 0.78164
NM_020166.4(MCCC1):c.-100G>C rs937652 0.60097
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_022132.5(MCCC2):c.904-12A>G rs277984 0.30658
NM_022132.5(MCCC2):c.*1198C>T rs277975 0.28389
NM_022132.5(MCCC2):c.*593G>T rs60069076 0.09309
NM_022132.5(MCCC2):c.*1573C>G rs112693079 0.01960
NM_022132.5(MCCC2):c.*1351G>A rs144494459 0.01269
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_022132.5(MCCC2):c.*245T>C rs11551918 0.01133
NM_022132.5(MCCC2):c.*1080G>T rs7727902 0.01132
NM_022132.5(MCCC2):c.*1381A>C rs115650149 0.01118
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907 0.01062
NM_022132.5(MCCC2):c.*577T>A rs150412501 0.00871
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_020166.5(MCCC1):c.-24A>G rs11540930 0.00749
NM_020166.5(MCCC1):c.-25C>A rs149741951 0.00453
NM_022132.5(MCCC2):c.-38G>A rs186132078 0.00403
NM_022132.5(MCCC2):c.*526C>T rs181669670 0.00339
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
NM_020166.5(MCCC1):c.*1A>T rs115605600 0.00230
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00171
NM_022132.5(MCCC2):c.*191A>T rs142332769 0.00169
NM_022132.5(MCCC2):c.*1466T>C rs148015309 0.00143
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_020166.5(MCCC1):c.*6A>C rs199827064 0.00112
NM_022132.5(MCCC2):c.*819G>A rs565662004 0.00100
NM_022132.5(MCCC2):c.*552C>T rs544574975 0.00093
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
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.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_022132.5(MCCC2):c.*773C>T rs1013092369 0.00055
NM_020166.5(MCCC1):c.-23C>T rs374636986 0.00051
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_022132.5(MCCC2):c.*548C>T rs933207621 0.00040
NM_022132.5(MCCC2):c.*725C>T rs370508668 0.00035
NM_022132.5(MCCC2):c.*1297G>A rs547084096 0.00033
NM_022132.5(MCCC2):c.*565C>A rs565365607 0.00032
NM_022132.5(MCCC2):c.*714G>A rs562662053 0.00030
NM_022132.5(MCCC2):c.*368T>C rs769233664 0.00029
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00021
NM_022132.5(MCCC2):c.*260T>A rs886060739 0.00019
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 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_022132.5(MCCC2):c.*941A>G rs537387461 0.00011
NM_022132.5(MCCC2):c.58C>T (p.Pro20Ser) rs371336335 0.00011
NM_022132.5(MCCC2):c.*1272A>G rs772502944 0.00009
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_022132.5(MCCC2):c.*1354C>T rs538509005 0.00007
NM_022132.5(MCCC2):c.*699T>C rs886060741 0.00006
NM_022132.5(MCCC2):c.*856C>T rs886060744 0.00006
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_022132.5(MCCC2):c.*1649C>T rs539578408 0.00005
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met) rs150943644 0.00004
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053 0.00004
NM_022132.5(MCCC2):c.*378T>A rs535221710 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792 0.00004
NM_022132.5(MCCC2):c.355A>G (p.Ile119Val) rs770437473 0.00004
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr) rs768011454 0.00003
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635 0.00003
NM_022132.5(MCCC2):c.*1539G>T rs1031741545 0.00003
NM_022132.5(MCCC2):c.*719del rs886060742 0.00003
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00003
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 0.00002
NM_022132.5(MCCC2):c.*659C>T rs886060740 0.00002
NM_020166.5(MCCC1):c.*90G>A rs894828851 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.9G>A (p.Ala3=) rs1191355416 0.00001
NM_022132.5(MCCC2):c.*1144A>G rs886060747 0.00001
NM_022132.5(MCCC2):c.*719A>G rs986206032 0.00001
NM_022132.5(MCCC2):c.*839T>C rs886060743 0.00001
NM_022132.5(MCCC2):c.*878T>G rs886060745 0.00001
NM_022132.5(MCCC2):c.1574+5G>A rs781483923 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222 0.00001
NM_022132.5(MCCC2):c.615T>G (p.Asn205Lys) rs368906147 0.00001
NM_022132.5(MCCC2):c.675C>A (p.Ala225=) rs781610298 0.00001
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_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.197G>A (p.Arg66His) rs569042803
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.640_641delGG rs886058209
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_022132.5(MCCC2):c.*1591A>C rs1388895100
NM_022132.5(MCCC2):c.*1650G>A rs902451036
NM_022132.5(MCCC2):c.*16T>A rs1747596046
NM_022132.5(MCCC2):c.*246A>G rs965261367
NM_022132.5(MCCC2):c.*700G>T rs972036465
NM_022132.5(MCCC2):c.*843A>C rs1747622599
NM_022132.5(MCCC2):c.*940C>G rs886060746
NM_022132.5(MCCC2):c.*970G>A rs368250327
NM_022132.5(MCCC2):c.1225G>A (p.Val409Ile) rs1373747202
NM_022132.5(MCCC2):c.1235A>C (p.Glu412Ala) rs371587906
NM_022132.5(MCCC2):c.1235A>G (p.Glu412Gly) rs371587906
NM_022132.5(MCCC2):c.1407dup (p.Ile470fs) rs1561848250
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly) rs1747591661
NM_022132.5(MCCC2):c.383+4A>G rs1745349543
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) rs1745481314
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly) rs757389984

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