ClinVar Miner

List of variants in gene MCCC1 reported as likely benign for 3-methylcrotonyl-CoA carboxylase deficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 305
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_020166.5(MCCC1):c.874-95A>G rs144420749 0.00802
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725 0.00068
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581 0.00066
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139 0.00064
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219 0.00058
NM_020166.5(MCCC1):c.1160A>G (p.Tyr387Cys) rs147116804 0.00056
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703 0.00056
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val) rs138937107 0.00049
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281 0.00037
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447 0.00037
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877 0.00034
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708 0.00021
NM_020166.5(MCCC1):c.1732-9T>A rs370660849 0.00011
NM_020166.5(MCCC1):c.89+13G>C rs774187137 0.00011
NM_020166.5(MCCC1):c.762-5T>C rs369355125 0.00010
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499 0.00009
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00008
NM_020166.5(MCCC1):c.1083+10T>A rs374971501 0.00006
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603 0.00006
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=) rs750602906 0.00006
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846 0.00006
NM_020166.5(MCCC1):c.384A>C (p.Gly128=) rs139091481 0.00006
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=) rs199528231 0.00005
NM_020166.5(MCCC1):c.2050-17G>C rs371009096 0.00005
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=) rs140579569 0.00004
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854 0.00004
NM_020166.5(MCCC1):c.136+7A>G rs559629034 0.00004
NM_020166.5(MCCC1):c.165A>G (p.Ala55=) rs373199843 0.00004
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336 0.00004
NM_020166.5(MCCC1):c.66C>T (p.Leu22=) rs750778690 0.00004
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=) rs368135707 0.00003
NM_020166.5(MCCC1):c.1212C>T (p.His404=) rs769780560 0.00003
NM_020166.5(MCCC1):c.1314C>T (p.Val438=) rs774243822 0.00003
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) rs757687424 0.00003
NM_020166.5(MCCC1):c.1377+17C>T rs375624644 0.00003
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=) rs547421709 0.00003
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=) rs370727510 0.00003
NM_020166.5(MCCC1):c.300C>T (p.Pro100=) rs747409426 0.00003
NM_020166.5(MCCC1):c.492-5T>C rs775353666 0.00003
NM_020166.5(MCCC1):c.759G>A (p.Pro253=) rs761851977 0.00003
NM_020166.5(MCCC1):c.78C>T (p.Leu26=) rs760268547 0.00003
NM_020166.5(MCCC1):c.90-20C>T rs369103962 0.00003
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072 0.00002
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010 0.00002
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=) rs150835353 0.00002
NM_020166.5(MCCC1):c.1797A>G (p.Lys599=) rs147087448 0.00002
NM_020166.5(MCCC1):c.387C>T (p.Cys129=) rs761110034 0.00002
NM_020166.5(MCCC1):c.603T>C (p.Pro201=) rs765869735 0.00002
NM_020166.5(MCCC1):c.618C>T (p.Ala206=) rs760366008 0.00002
NM_020166.5(MCCC1):c.639+9G>T rs780170482 0.00002
NM_020166.5(MCCC1):c.761+14A>G rs372797109 0.00002
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=) rs773895702 0.00001
NM_020166.5(MCCC1):c.1089A>G (p.Ala363=) rs746900508 0.00001
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=) rs777766730 0.00001
NM_020166.5(MCCC1):c.1221T>G (p.Thr407=) rs781302711 0.00001
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=) rs779316162 0.00001
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221 0.00001
NM_020166.5(MCCC1):c.1377+18G>A rs1373677740 0.00001
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=) rs780740389 0.00001
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) rs763803301 0.00001
NM_020166.5(MCCC1):c.1569C>T (p.Thr523=) rs746494126 0.00001
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=) rs747015041 0.00001
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) rs200025893 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=) rs769042107 0.00001
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) rs747354023 0.00001
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543 0.00001
NM_020166.5(MCCC1):c.183C>T (p.Ala61=) rs756447790 0.00001
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=) rs758827154 0.00001
NM_020166.5(MCCC1):c.1858C>T (p.Leu620=) rs1382492613 0.00001
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751 0.00001
NM_020166.5(MCCC1):c.2049+10T>C rs1233685852 0.00001
NM_020166.5(MCCC1):c.2082A>G (p.Val694=) rs765720892 0.00001
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041 0.00001
NM_020166.5(MCCC1):c.2136C>T (p.Val712=) rs984881958 0.00001
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=) rs781286566 0.00001
NM_020166.5(MCCC1):c.492-4A>G rs908545297 0.00001
NM_020166.5(MCCC1):c.492-6C>T rs746685018 0.00001
NM_020166.5(MCCC1):c.492-7T>C rs768336115 0.00001
NM_020166.5(MCCC1):c.89+20C>T rs749164963 0.00001
NM_020166.5(MCCC1):c.1020G>T (p.Leu340=)
NM_020166.5(MCCC1):c.1062C>T (p.Asp354=)
NM_020166.5(MCCC1):c.1068G>A (p.Val356=) rs1175377728
NM_020166.5(MCCC1):c.1071G>A (p.Glu357=) rs773029355
NM_020166.5(MCCC1):c.1080T>C (p.Leu360=) rs2108486547
NM_020166.5(MCCC1):c.1083+16C>G
NM_020166.5(MCCC1):c.1083+9A>T rs376902416
NM_020166.5(MCCC1):c.1084-6T>C
NM_020166.5(MCCC1):c.1084-8A>G
NM_020166.5(MCCC1):c.1089A>T (p.Ala363=)
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=) rs777891780
NM_020166.5(MCCC1):c.1122A>G (p.Glu374=) rs752061963
NM_020166.5(MCCC1):c.1143C>G (p.Ala381=)
NM_020166.5(MCCC1):c.1185C>T (p.Phe395=) rs1285687401
NM_020166.5(MCCC1):c.1209G>C (p.Val403=) rs1016870729
NM_020166.5(MCCC1):c.1215C>G (p.Leu405=)
NM_020166.5(MCCC1):c.1215C>T (p.Leu405=)
NM_020166.5(MCCC1):c.1236T>G (p.Pro412=) rs1714087455
NM_020166.5(MCCC1):c.1243A>C (p.Arg415=)
NM_020166.5(MCCC1):c.1254T>C (p.Thr418=)
NM_020166.5(MCCC1):c.1260A>G (p.Val420=) rs2108478875
NM_020166.5(MCCC1):c.1267+15A>G
NM_020166.5(MCCC1):c.1267+9A>G rs2108478831
NM_020166.5(MCCC1):c.1268-18C>T
NM_020166.5(MCCC1):c.1268-18del
NM_020166.5(MCCC1):c.1268-19C>A
NM_020166.5(MCCC1):c.1268-20A>C
NM_020166.5(MCCC1):c.1268-6T>C
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=) rs759359909
NM_020166.5(MCCC1):c.1317G>A (p.Val439=) rs1713855580
NM_020166.5(MCCC1):c.1326A>C (p.Ala442=)
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+18T>A
NM_020166.5(MCCC1):c.136+18T>G
NM_020166.5(MCCC1):c.136+8C>G
NM_020166.5(MCCC1):c.136+9A>G
NM_020166.5(MCCC1):c.1368T>G (p.Arg456=)
NM_020166.5(MCCC1):c.137-15T>C
NM_020166.5(MCCC1):c.137-18dup
NM_020166.5(MCCC1):c.137-7T>A
NM_020166.5(MCCC1):c.1377+16C>A
NM_020166.5(MCCC1):c.1378-17G>C
NM_020166.5(MCCC1):c.138A>C (p.Gly46=) rs2108566202
NM_020166.5(MCCC1):c.138A>G (p.Gly46=)
NM_020166.5(MCCC1):c.1399A>G (p.Ile467Val)
NM_020166.5(MCCC1):c.139A>C (p.Arg47=)
NM_020166.5(MCCC1):c.1404C>T (p.Asp468=)
NM_020166.5(MCCC1):c.1407C>T (p.Phe469=)
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=) rs2108470855
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=) rs565662458
NM_020166.5(MCCC1):c.1428C>T (p.His476=)
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=) rs200216718
NM_020166.5(MCCC1):c.1452G>T (p.Val484=)
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=) rs1351299439
NM_020166.5(MCCC1):c.1464C>T (p.Phe488=)
NM_020166.5(MCCC1):c.1467C>T (p.Ile489=)
NM_020166.5(MCCC1):c.1482A>G (p.Lys494=)
NM_020166.5(MCCC1):c.1494C>T (p.Leu498=)
NM_020166.5(MCCC1):c.1498C>A (p.Arg500=)
NM_020166.5(MCCC1):c.1506T>C (p.Ala502=)
NM_020166.5(MCCC1):c.1509A>C (p.Ala503=)
NM_020166.5(MCCC1):c.1512C>T (p.Ala504=) rs2108470530
NM_020166.5(MCCC1):c.1539G>C (p.Leu513=) rs1713694212
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=) rs563586657
NM_020166.5(MCCC1):c.156C>T (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn) rs200031275
NM_020166.5(MCCC1):c.1587G>A (p.Gln529=)
NM_020166.5(MCCC1):c.1594+10G>T
NM_020166.5(MCCC1):c.1594+12T>A
NM_020166.5(MCCC1):c.1594+12T>C
NM_020166.5(MCCC1):c.1594+9G>A
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1681+10G>A
NM_020166.5(MCCC1):c.1681+13T>C
NM_020166.5(MCCC1):c.1681+7A>G
NM_020166.5(MCCC1):c.1681+9T>C rs2108461619
NM_020166.5(MCCC1):c.1682-12T>C
NM_020166.5(MCCC1):c.1682-16C>T
NM_020166.5(MCCC1):c.1682-6A>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>T (p.Thr567=)
NM_020166.5(MCCC1):c.1725C>T (p.Ser575=)
NM_020166.5(MCCC1):c.1731+7C>T
NM_020166.5(MCCC1):c.1734T>C (p.Ile578=)
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=) rs2108441668
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=) rs2108441635
NM_020166.5(MCCC1):c.1779A>G (p.Gly593=)
NM_020166.5(MCCC1):c.1788T>C (p.Thr596=)
NM_020166.5(MCCC1):c.1800T>C (p.Cys600=) rs2108441478
NM_020166.5(MCCC1):c.1833G>A (p.Leu611=) rs747354023
NM_020166.5(MCCC1):c.1839C>T (p.Ile613=)
NM_020166.5(MCCC1):c.1840C>T (p.Leu614=) rs2108441402
NM_020166.5(MCCC1):c.1848C>T (p.Asn616=)
NM_020166.5(MCCC1):c.1869+7T>A rs2108441301
NM_020166.5(MCCC1):c.1869+9T>C
NM_020166.5(MCCC1):c.1870-18T>C
NM_020166.5(MCCC1):c.1870-18_1870-16dup
NM_020166.5(MCCC1):c.1875A>C (p.Gly625=)
NM_020166.5(MCCC1):c.1917T>C (p.Ser639=)
NM_020166.5(MCCC1):c.1977+13C>T
NM_020166.5(MCCC1):c.1977+7A>G rs2108437702
NM_020166.5(MCCC1):c.1977+9A>G rs1712027129
NM_020166.5(MCCC1):c.1977+9A>T
NM_020166.5(MCCC1):c.1978-8del rs747001867
NM_020166.5(MCCC1):c.1989A>G (p.Lys663=)
NM_020166.5(MCCC1):c.198C>T (p.Arg66=)
NM_020166.5(MCCC1):c.2010G>T (p.Ala670=)
NM_020166.5(MCCC1):c.2049+15A>C
NM_020166.5(MCCC1):c.2049+9A>G rs1711715793
NM_020166.5(MCCC1):c.2050-15C>T
NM_020166.5(MCCC1):c.2050-19C>T
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=) rs1203426656
NM_020166.5(MCCC1):c.207A>G (p.Lys69=) rs1718434052
NM_020166.5(MCCC1):c.2091G>A (p.Val697=)
NM_020166.5(MCCC1):c.2094C>T (p.Phe698=)
NM_020166.5(MCCC1):c.2160C>T (p.Asp720=)
NM_020166.5(MCCC1):c.2163A>G (p.Lys721=)
NM_020166.5(MCCC1):c.2172G>C (p.Ser724=) rs781286566
NM_020166.5(MCCC1):c.219A>C (p.Val73=) rs1280526570
NM_020166.5(MCCC1):c.219A>G (p.Val73=)
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.24G>T (p.Ser8=)
NM_020166.5(MCCC1):c.258C>T (p.Ser86=)
NM_020166.5(MCCC1):c.264T>C (p.His88=)
NM_020166.5(MCCC1):c.274-18G>A
NM_020166.5(MCCC1):c.274-20A>G
NM_020166.5(MCCC1):c.285A>G (p.Ala95=)
NM_020166.5(MCCC1):c.297C>T (p.Gly99=)
NM_020166.5(MCCC1):c.300C>A (p.Pro100=)
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.336A>G (p.Lys112=) rs1204945524
NM_020166.5(MCCC1):c.33G>C (p.Leu11=)
NM_020166.5(MCCC1):c.342T>C (p.Ile114=) rs2108553502
NM_020166.5(MCCC1):c.369+12G>A
NM_020166.5(MCCC1):c.369+14A>G
NM_020166.5(MCCC1):c.370-4C>A
NM_020166.5(MCCC1):c.411A>G (p.Glu137=) rs2108528534
NM_020166.5(MCCC1):c.423T>G (p.Leu141=) rs2108528517
NM_020166.5(MCCC1):c.462A>G (p.Pro154=) rs1010978187
NM_020166.5(MCCC1):c.491+10T>C
NM_020166.5(MCCC1):c.491+13A>G
NM_020166.5(MCCC1):c.491+14T>G
NM_020166.5(MCCC1):c.491+8T>C
NM_020166.5(MCCC1):c.492-11C>G
NM_020166.5(MCCC1):c.492-16C>A
NM_020166.5(MCCC1):c.495A>G (p.Thr165=)
NM_020166.5(MCCC1):c.498C>T (p.Ser166=)
NM_020166.5(MCCC1):c.519T>C (p.Ala173=) rs2108526654
NM_020166.5(MCCC1):c.51C>T (p.Asn17=) rs557695078
NM_020166.5(MCCC1):c.561A>G (p.Ser187=)
NM_020166.5(MCCC1):c.582C>T (p.His194=)
NM_020166.5(MCCC1):c.588G>A (p.Arg196=) rs1716663064
NM_020166.5(MCCC1):c.603T>G (p.Pro201=)
NM_020166.5(MCCC1):c.622C>A (p.Arg208=) rs759345755
NM_020166.5(MCCC1):c.627T>G (p.Gly209=)
NM_020166.5(MCCC1):c.639+11G>T rs1716653818
NM_020166.5(MCCC1):c.639+11_639+12insTTCTTTTGGCAAAAACAAAAA rs1716653595
NM_020166.5(MCCC1):c.639+16C>G
NM_020166.5(MCCC1):c.639+16_639+17insCCACACACACAT
NM_020166.5(MCCC1):c.639+7T>G
NM_020166.5(MCCC1):c.639+8T>G
NM_020166.5(MCCC1):c.639+9G>A
NM_020166.5(MCCC1):c.640-10T>C rs1011275855
NM_020166.5(MCCC1):c.640-16A>G
NM_020166.5(MCCC1):c.640-5C>A rs892786406
NM_020166.5(MCCC1):c.640-7C>G rs1414857427
NM_020166.5(MCCC1):c.648G>A (p.Arg216=) rs2108526043
NM_020166.5(MCCC1):c.660A>C (p.Ser220=) rs2108526023
NM_020166.5(MCCC1):c.66C>G (p.Leu22=) rs750778690
NM_020166.5(MCCC1):c.678A>G (p.Glu226=) rs1577328315
NM_020166.5(MCCC1):c.696G>A (p.Arg232=)
NM_020166.5(MCCC1):c.699A>G (p.Arg233=)
NM_020166.5(MCCC1):c.69G>A (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.738C>A (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.75G>A (p.Leu25=)
NM_020166.5(MCCC1):c.762-13del
NM_020166.5(MCCC1):c.762-9T>C rs2108505742
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.786T>G (p.Gly262=)
NM_020166.5(MCCC1):c.79C>T (p.Leu27=)
NM_020166.5(MCCC1):c.804T>C (p.Ala268=)
NM_020166.5(MCCC1):c.813G>A (p.Leu271=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.84G>A (p.Pro28=)
NM_020166.5(MCCC1):c.864G>A (p.Glu288=)
NM_020166.5(MCCC1):c.867C>A (p.Ala289=) rs2108505485
NM_020166.5(MCCC1):c.870A>G (p.Pro290=)
NM_020166.5(MCCC1):c.873+16A>G
NM_020166.5(MCCC1):c.873+17G>C
NM_020166.5(MCCC1):c.873+17G>T
NM_020166.5(MCCC1):c.874-13A>T
NM_020166.5(MCCC1):c.874-15A>T
NM_020166.5(MCCC1):c.874-18T>A
NM_020166.5(MCCC1):c.874-4A>G
NM_020166.5(MCCC1):c.879T>G (p.Gly293=)
NM_020166.5(MCCC1):c.87G>A (p.Pro29=) rs1383349919
NM_020166.5(MCCC1):c.89+12G>A
NM_020166.5(MCCC1):c.89+16A>G
NM_020166.5(MCCC1):c.89+17T>C
NM_020166.5(MCCC1):c.89+8G>A
NM_020166.5(MCCC1):c.897A>G (p.Arg299=)
NM_020166.5(MCCC1):c.90-12T>C
NM_020166.5(MCCC1):c.90-19T>G
NM_020166.5(MCCC1):c.90-5T>C
NM_020166.5(MCCC1):c.90-7G>A rs1490296486
NM_020166.5(MCCC1):c.948T>G (p.Val316=)
NM_020166.5(MCCC1):c.955+10G>T rs1004658113
NM_020166.5(MCCC1):c.955+16C>T
NM_020166.5(MCCC1):c.956-15T>C
NM_020166.5(MCCC1):c.956-19A>G
NM_020166.5(MCCC1):c.956-7C>G
NM_020166.5(MCCC1):c.956-8C>T rs1577284365
NM_020166.5(MCCC1):c.969T>C (p.Phe323=) rs2108486797
NM_020166.5(MCCC1):c.981A>C (p.Ser327=)
NM_020166.5(MCCC1):c.99G>A (p.Val33=) rs1718607448

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