ClinVar Miner

List of variants reported as pathogenic for 3-methylcrotonyl-CoA carboxylase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 221
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00059
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670 0.00041
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser) rs142887940 0.00016
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00012
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 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.463C>T (p.Arg155Trp) rs141030969 0.00004
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.684dup (p.Glu229fs) rs773583869 0.00003
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00003
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164 0.00003
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_022132.5(MCCC2):c.1574+1G>A rs730880265 0.00002
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter) rs367625370 0.00001
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924 0.00001
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442 0.00001
NM_020166.5(MCCC1):c.1268-1G>A rs1191868168 0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter) rs1163620394 0.00001
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850 0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val) rs748201122 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_020166.5(MCCC1):c.804del (p.Val269fs) rs1307113234 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs) rs748269732 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter) rs1413464990 0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) rs751393852 0.00001
NM_022132.5(MCCC2):c.1234del (p.Glu412fs) rs1747357327 0.00001
NM_022132.5(MCCC2):c.1371T>A (p.Tyr457Ter) rs764213364 0.00001
NM_022132.5(MCCC2):c.1412_1413del (p.Ser471fs) rs780304038 0.00001
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019 0.00001
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr) rs774241918 0.00001
NM_022132.5(MCCC2):c.1623G>T (p.Leu541Phe) rs753443203 0.00001
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963 0.00001
NM_022132.5(MCCC2):c.230C>G (p.Ser77Ter) rs1304896406 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009 0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222 0.00001
NM_022132.5(MCCC2):c.506A>G (p.Tyr169Cys) rs1580281124 0.00001
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606 0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) rs774180632 0.00001
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) rs764286389 0.00001
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795 0.00001
NM_022132.5(MCCC2):c.758_759insT (p.Glu253fs) rs1746738845 0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NC_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182733226)_(184094097_?)del
NC_000003.11:g.(?_182743523)_(182743612_?)del
NC_000003.11:g.(?_182751759)_(182770048_?)del
NC_000003.11:g.(?_182754986)_(182770048_?)del
NC_000003.11:g.(?_182754986)_(182775230_?)del
NC_000003.11:g.(?_182756794)_(182763348_?)del
NC_000003.11:g.(?_182769927)_(182817228_?)del
NC_000003.11:g.(?_182788836)_(182792878_?)del
NC_000003.11:g.(?_182790144)_(182817385_?)del
NC_000003.11:g.(?_182810187)_(182812403_?)del
NC_000003.11:g.(?_182817140)_(182817228_?)del
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.183057423del rs2530274504
NC_000005.10:g.(?_71587406)_(71656880_?)del
NC_000005.10:g.(?_71626620)_(71649273_?)del
NC_000005.9:g.(?_70883253)_(70883401_?)del
NC_000005.9:g.(?_70888733)_(70895607_?)del
NC_000005.9:g.(?_70892087)_(70892211_?)del
NC_000005.9:g.(?_70892097)_(70892201_?)del
NC_000005.9:g.(?_70895466)_(70895607_?)del
NC_000005.9:g.(?_70895466)_(70900315_?)del
NC_000005.9:g.(?_70895466)_(70900315_?)dup
NC_000005.9:g.(?_70895476)_(70900305_?)dup
NC_000005.9:g.(?_70898323)_(70900305_?)del
NC_000005.9:g.(?_70898323)_(70928022_?)del
NC_000005.9:g.(?_70922447)_(70952687_?)del
NC_000005.9:g.(?_70922457)_(70922590_?)del
NC_000005.9:g.(?_70927928)_(70931093_?)del
NC_000005.9:g.(?_70930773)_(70930871_?)del
NC_000005.9:g.(?_70936810)_(70936922_?)del
NC_000005.9:g.(?_70939626)_(70948601_?)del
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter) rs2530194420
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1126del (p.Thr376fs) rs2530166841
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.1132C>T (p.Gln378Ter) rs2108479383
NM_020166.5(MCCC1):c.1133dup (p.His380fs) rs2530166738
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter) rs2108479136
NM_020166.5(MCCC1):c.1210dup (p.His404fs) rs1577276144
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter) rs2108569910
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter) rs2108478837
NM_020166.5(MCCC1):c.1268-2A>G rs2108474093
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter) rs1453886049
NM_020166.5(MCCC1):c.1518del (p.Glu506fs) rs2530128064
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) rs1713693597
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs) rs1331457189
NM_020166.5(MCCC1):c.1630del (p.Arg544fs) rs1243671468
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter) rs2108461735
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs) rs2530101552
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter) rs2530101395
NM_020166.5(MCCC1):c.1679del (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1721dup (p.Tyr574Ter)
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter) rs747015041
NM_020166.5(MCCC1):c.1731+1del rs2530057514
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter) rs2530043474
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer) rs2108441513
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs) rs2108441358
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) rs1712230544
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter) rs1311139055
NM_020166.5(MCCC1):c.1937del (p.Gln646fs) rs1712031289
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.2014del (p.Asp672fs) rs2530014641
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter) rs1162953685
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs) rs2108565864
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) rs1718431677
NM_020166.5(MCCC1):c.251_252del (p.Arg84fs)
NM_020166.5(MCCC1):c.272del (p.Met91fs) rs2530508755
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter) rs1012193526
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter) rs1177891822
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) rs761110034
NM_020166.5(MCCC1):c.393del (p.Leu132fs) rs2530372828
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs) rs1716766263
NM_020166.5(MCCC1):c.435del (p.Gly146fs) rs1486240538
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer) rs2530372155
NM_020166.5(MCCC1):c.48del (p.Asn17fs) rs2530560048
NM_020166.5(MCCC1):c.532del (p.Val178fs) rs2530363834
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter) rs2108526606
NM_020166.5(MCCC1):c.556del (p.Gln186fs) rs2108526541
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs) rs2530362884
NM_020166.5(MCCC1):c.622del (p.Arg208fs) rs2530362767
NM_020166.5(MCCC1):c.635del (p.Gly212fs) rs2108526355
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs) rs1303867228
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) rs779412317
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs) rs1716637067
NM_020166.5(MCCC1):c.704del (p.Ala235fs) rs1577328234
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.761+2T>C
NM_020166.5(MCCC1):c.762-2A>G rs765149078
NM_020166.5(MCCC1):c.762-2_762-1del rs2108505736
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer) rs2530273568
NM_020166.5(MCCC1):c.881_891del (p.Ile294fs)
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs) rs2108496973
NM_020166.5(MCCC1):c.960del (p.Val321fs) rs2530195072
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) rs763293192
NM_022132.5(MCCC2):c.1103del (p.Gly368fs) rs756218448
NM_022132.5(MCCC2):c.1128_1129del (p.Phe377_Ser378insTer)
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
NM_022132.5(MCCC2):c.1150-1G>A rs2530853368
NM_022132.5(MCCC2):c.1150-1G>C
NM_022132.5(MCCC2):c.1181G>T (p.Arg394Ile) rs531994517
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr) rs142887940
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) rs2112251855
NM_022132.5(MCCC2):c.1308_1318del (p.Lys436fs) rs2112467862
NM_022132.5(MCCC2):c.1350T>A (p.Tyr450Ter) rs1248143390
NM_022132.5(MCCC2):c.1486C>T (p.Gln496Ter) rs2530860140
NM_022132.5(MCCC2):c.1546_1547insGGCCGGGCGCGGGGGCTCACGCTTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCGGGAGATNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGAAGTTTGAAGAGG (p.Glu515_Glu516insGlyProGlyAlaGlyAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyTrpIleThrArgSerGlyAspXaaXaaXaaXaaLysLysLysLysLysLysLysLysPheGluGlu)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs) rs2530870782
NM_022132.5(MCCC2):c.1676G>A (p.Gly559Asp) rs1747595026
NM_022132.5(MCCC2):c.181G>T (p.Glu61Ter) rs752593298
NM_022132.5(MCCC2):c.190A>T (p.Lys64Ter) rs796051989
NM_022132.5(MCCC2):c.1A>G (p.Met1Val)
NM_022132.5(MCCC2):c.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.231_232del (p.Gly79fs)
NM_022132.5(MCCC2):c.242dup (p.Leu82fs)
NM_022132.5(MCCC2):c.282-1G>C rs1745344357
NM_022132.5(MCCC2):c.318C>A (p.Tyr106Ter) rs2112308910
NM_022132.5(MCCC2):c.342del (p.Pro115fs) rs2112309156
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022132.5(MCCC2):c.380C>G (p.Ser127Ter) rs398124372
NM_022132.5(MCCC2):c.449_450del (p.Val150fs) rs1554134061
NM_022132.5(MCCC2):c.512-1G>A rs1282502867
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.529del (p.Tyr177fs) rs2530740239
NM_022132.5(MCCC2):c.533T>G (p.Leu178Ter) rs2112328709
NM_022132.5(MCCC2):c.557del (p.Pro186fs) rs1745582317
NM_022132.5(MCCC2):c.581del (p.Thr194fs) rs1190325113
NM_022132.5(MCCC2):c.5_69del (p.Trp2fs) rs2530683847
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.663del (p.Tyr222fs) rs2530808635
NM_022132.5(MCCC2):c.670C>A (p.Pro224Thr) rs2530808704
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022132.5(MCCC2):c.69del (p.His24fs) rs2530684414
NM_022132.5(MCCC2):c.735del (p.Leu246fs) rs770769655
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.739del rs1463802125
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter) rs2530820915
NM_022132.5(MCCC2):c.76_77del (p.Asp26fs) rs2112251301
NM_022132.5(MCCC2):c.789del (p.Asp264fs) rs2530821025
NM_022132.5(MCCC2):c.803G>C (p.Arg268Thr) rs119103223
NM_022132.5(MCCC2):c.823del (p.His275fs) rs2112437401
NM_022132.5(MCCC2):c.891_892del (p.Lys298fs) rs1580319814
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.970_985del (p.Asn324fs) rs2112438432
NM_022132.5(MCCC2):c.987dup (p.Asp330Ter) rs1554137532

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