ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 186
Download table as spreadsheet
HGVS dbSNP
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.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.1222C>T (p.Pro408Ser) rs1560224165
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
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.130G>T (p.Ala44Ser)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
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.137G>A (p.Gly46Glu) rs199517715
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.1561G>A (p.Ala521Thr)
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
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.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
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.1994G>A (p.Gly665Glu)
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
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.2088dup (p.Val697fs)
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
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.239G>A (p.Ser80Asn) rs774565207
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr)
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
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.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.455C>T (p.Pro152Leu)
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.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272
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.829A>G (p.Ser277Gly)
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
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.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)
NM_022132.4(MCCC2):c.1367_1368inv (p.Ala456Val)
NM_022132.5(MCCC2):c.*1144A>G rs886060747
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.*1354C>T rs538509005
NM_022132.5(MCCC2):c.*1539G>T
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.*246A>G
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.*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.-38G>A rs186132078
NM_022132.5(MCCC2):c.1010G>C (p.Arg337Thr)
NM_022132.5(MCCC2):c.1043A>G (p.Lys348Arg)
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
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.125A>G (p.Tyr42Cys)
NM_022132.5(MCCC2):c.1273A>G (p.Met425Val) rs766591766
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.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.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1450A>C (p.Thr484Pro) rs1554138549
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.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+5G>A
NM_022132.5(MCCC2):c.1583A>G (p.Asp528Gly)
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.295G>A (p.Glu99Lys) 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.383+4A>G
NM_022132.5(MCCC2):c.430G>T (p.Ala144Ser)
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His)
NM_022132.5(MCCC2):c.436T>G (p.Tyr146Asp) rs1402663229
NM_022132.5(MCCC2):c.455A>C (p.Lys152Thr) rs1554134065
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.568C>T (p.His190Tyr) rs773774134
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.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.675C>A (p.Ala225=) rs781610298
NM_022132.5(MCCC2):c.709G>C (p.Gly237Arg) rs781559418
NM_022132.5(MCCC2):c.72C>G (p.His24Gln) rs374686220
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
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.