ClinVar Miner

List of variants in gene MCCC2 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: 266
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.738+132C>T rs77085070 0.08052
NM_022132.5(MCCC2):c.*1351G>A rs144494459 0.01269
NM_022132.5(MCCC2):c.*245T>C rs11551918 0.01133
NM_022132.5(MCCC2):c.*1080G>T rs7727902 0.01048
NM_022132.5(MCCC2):c.*577T>A rs150412501 0.00871
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00253
NM_022132.5(MCCC2):c.1439A>G (p.Asn480Ser) rs115328026 0.00247
NM_022132.5(MCCC2):c.1217-7C>G rs148369119 0.00167
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp) rs140220101 0.00040
NM_022132.5(MCCC2):c.1374-10C>T rs766032118 0.00034
NM_022132.5(MCCC2):c.738+9A>G rs776559643 0.00032
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315 0.00023
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270 0.00014
NM_022132.5(MCCC2):c.539G>A (p.Arg180Gln) rs145846295 0.00012
NM_022132.5(MCCC2):c.1488+10G>A rs190514867 0.00007
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912 0.00007
NM_022132.5(MCCC2):c.738+16C>T rs554502924 0.00007
NM_022132.5(MCCC2):c.1056A>C (p.Gly352=) rs373146322 0.00006
NM_022132.5(MCCC2):c.1072+17T>C rs201664905 0.00006
NM_022132.5(MCCC2):c.1341C>T (p.Ala447=) rs548725229 0.00006
NM_022132.5(MCCC2):c.1509G>A (p.Ala503=) rs779855532 0.00006
NM_022132.5(MCCC2):c.1626T>C (p.Gly542=) rs758918920 0.00005
NM_022132.5(MCCC2):c.1650C>T (p.Asn550=) rs200915932 0.00005
NM_022132.5(MCCC2):c.417C>T (p.Thr139=) rs367635502 0.00005
NM_022132.5(MCCC2):c.1560C>T (p.Tyr520=) rs765801018 0.00004
NM_022132.5(MCCC2):c.511+13A>T rs537890164 0.00004
NM_022132.5(MCCC2):c.72C>T (p.His24=) rs374686220 0.00004
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487 0.00003
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=) rs201238842 0.00003
NM_022132.5(MCCC2):c.1449C>T (p.Ala483=) rs1049308310 0.00003
NM_022132.5(MCCC2):c.1521G>A (p.Glu507=) rs1266022580 0.00003
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577 0.00003
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00003
NM_022132.5(MCCC2):c.219A>C (p.Ala73=) rs1048291170 0.00003
NM_022132.5(MCCC2):c.25C>T (p.Leu9=) rs1285116638 0.00003
NM_022132.5(MCCC2):c.282-8C>T rs574221691 0.00003
NM_022132.5(MCCC2):c.384-10T>C rs1285974220 0.00003
NM_022132.5(MCCC2):c.738+17G>A rs752630118 0.00003
NM_022132.5(MCCC2):c.876G>A (p.Arg292=) rs372036992 0.00003
NM_022132.5(MCCC2):c.999+16A>G rs1241526106 0.00003
NM_022132.5(MCCC2):c.999+8A>G rs575141754 0.00003
NM_022132.5(MCCC2):c.1119C>T (p.Asn373=) rs766440020 0.00002
NM_022132.5(MCCC2):c.1281C>T (p.Ala427=) rs754213093 0.00002
NM_022132.5(MCCC2):c.129+17G>C rs1486770783 0.00002
NM_022132.5(MCCC2):c.1488+10del rs767400522 0.00002
NM_022132.5(MCCC2):c.1524C>T (p.Pro508=) rs146674014 0.00002
NM_022132.5(MCCC2):c.1575-10C>A rs1303395410 0.00002
NM_022132.5(MCCC2):c.244T>C (p.Leu82=) rs2112293727 0.00002
NM_022132.5(MCCC2):c.435C>T (p.Tyr145=) rs1554134056 0.00002
NM_022132.5(MCCC2):c.624+13G>T rs376190037 0.00002
NM_022132.5(MCCC2):c.747G>A (p.Ala249=) rs769016404 0.00002
NM_022132.5(MCCC2):c.78C>T (p.Asp26=) rs774475879 0.00002
NM_022132.5(MCCC2):c.864G>A (p.Arg288=) rs368236133 0.00002
NM_022132.5(MCCC2):c.903+9G>A rs747069963 0.00002
NM_022132.5(MCCC2):c.105G>A (p.Pro35=) rs1365918358 0.00001
NM_022132.5(MCCC2):c.1072+14G>A rs1269625914 0.00001
NM_022132.5(MCCC2):c.1107C>T (p.Ile369=) rs1394757971 0.00001
NM_022132.5(MCCC2):c.1122A>G (p.Gly374=) rs754536947 0.00001
NM_022132.5(MCCC2):c.1197G>C (p.Leu399=) rs1293642251 0.00001
NM_022132.5(MCCC2):c.1216+10T>C rs777129152 0.00001
NM_022132.5(MCCC2):c.1216+12G>T rs772406163 0.00001
NM_022132.5(MCCC2):c.1216+19del rs1419272899 0.00001
NM_022132.5(MCCC2):c.1216+8A>G rs532313245 0.00001
NM_022132.5(MCCC2):c.1217-16C>T rs772467591 0.00001
NM_022132.5(MCCC2):c.123C>T (p.Leu41=) rs1195696335 0.00001
NM_022132.5(MCCC2):c.1242A>G (p.Glu414=) rs375010821 0.00001
NM_022132.5(MCCC2):c.129+8G>C rs1313296577 0.00001
NM_022132.5(MCCC2):c.1332C>T (p.Ser444=) rs530131846 0.00001
NM_022132.5(MCCC2):c.1374-19C>A rs761903116 0.00001
NM_022132.5(MCCC2):c.13C>T (p.Leu5=) rs954414863 0.00001
NM_022132.5(MCCC2):c.1452G>A (p.Thr484=) rs1345577961 0.00001
NM_022132.5(MCCC2):c.1458A>G (p.Thr486=) rs766552300 0.00001
NM_022132.5(MCCC2):c.1476G>T (p.Arg492=) rs201279542 0.00001
NM_022132.5(MCCC2):c.1488+15C>T rs769075063 0.00001
NM_022132.5(MCCC2):c.1489-4T>C rs1747467560 0.00001
NM_022132.5(MCCC2):c.1500T>C (p.Ala500=) rs1747468314 0.00001
NM_022132.5(MCCC2):c.1575-15T>C rs1466702401 0.00001
NM_022132.5(MCCC2):c.1647C>T (p.Leu549=) rs781648337 0.00001
NM_022132.5(MCCC2):c.1668T>C (p.Thr556=) rs1200111967 0.00001
NM_022132.5(MCCC2):c.196+20C>T rs766988420 0.00001
NM_022132.5(MCCC2):c.270C>G (p.Leu90=) rs1227273478 0.00001
NM_022132.5(MCCC2):c.282-15C>T rs2530723509 0.00001
NM_022132.5(MCCC2):c.330C>T (p.Asp110=) rs201872484 0.00001
NM_022132.5(MCCC2):c.336G>A (p.Glu112=) rs1325018619 0.00001
NM_022132.5(MCCC2):c.354C>G (p.Gly118=) rs1433769835 0.00001
NM_022132.5(MCCC2):c.383+17T>C rs1745350073 0.00001
NM_022132.5(MCCC2):c.456A>G (p.Lys152=) rs1409261895 0.00001
NM_022132.5(MCCC2):c.504C>A (p.Ile168=) rs774125217 0.00001
NM_022132.5(MCCC2):c.519G>A (p.Ser173=) rs757075066 0.00001
NM_022132.5(MCCC2):c.51C>G (p.Pro17=) rs1390205513 0.00001
NM_022132.5(MCCC2):c.549T>C (p.Asp183=) rs1400921456 0.00001
NM_022132.5(MCCC2):c.552G>A (p.Val184=) rs555245153 0.00001
NM_022132.5(MCCC2):c.625-17G>A rs771274447 0.00001
NM_022132.5(MCCC2):c.625-18C>T rs763090809 0.00001
NM_022132.5(MCCC2):c.627C>T (p.Ile209=) rs777033953 0.00001
NM_022132.5(MCCC2):c.651C>T (p.Thr217=) rs1380948898 0.00001
NM_022132.5(MCCC2):c.657A>C (p.Gly219=) rs1350958601 0.00001
NM_022132.5(MCCC2):c.729A>C (p.Gly243=) rs535377555 0.00001
NM_022132.5(MCCC2):c.736T>C (p.Leu246=) rs1303225809 0.00001
NM_022132.5(MCCC2):c.739-11C>T rs759423509 0.00001
NM_022132.5(MCCC2):c.739-7G>T rs765082065 0.00001
NM_022132.5(MCCC2):c.739-8T>C rs1436914543 0.00001
NM_022132.5(MCCC2):c.753T>C (p.Thr251=) rs3736398 0.00001
NM_022132.5(MCCC2):c.786T>G (p.Gly262=) rs1041557611 0.00001
NM_022132.5(MCCC2):c.798T>C (p.His266=) rs932586663 0.00001
NM_022132.5(MCCC2):c.803+12A>C rs755578069 0.00001
NM_022132.5(MCCC2):c.804-10T>C rs1295275733 0.00001
NM_022132.5(MCCC2):c.804-4G>A rs1198154648 0.00001
NM_022132.5(MCCC2):c.903+20A>T rs1195927699 0.00001
NM_022132.5(MCCC2):c.903+8C>T rs1348079727 0.00001
NM_022132.5(MCCC2):c.904-19A>G rs766072826 0.00001
NM_022132.5(MCCC2):c.904-4G>T rs758885126 0.00001
NM_022132.5(MCCC2):c.96C>T (p.Gly32=) rs1436793904 0.00001
NM_022132.5(MCCC2):c.*970G>A rs368250327
NM_022132.5(MCCC2):c.1000-17G>A rs774924853
NM_022132.5(MCCC2):c.1008T>C (p.Ala336=)
NM_022132.5(MCCC2):c.1014C>A (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.1072+12A>T rs2530841761
NM_022132.5(MCCC2):c.1072+9G>A rs779091338
NM_022132.5(MCCC2):c.1128C>G (p.Leu376=) rs758139797
NM_022132.5(MCCC2):c.1128C>T (p.Leu376=) rs758139797
NM_022132.5(MCCC2):c.1137A>G (p.Glu379=) rs1235766070
NM_022132.5(MCCC2):c.114C>T (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.1150-17A>G rs2530853340
NM_022132.5(MCCC2):c.1150-17_1150-16del rs904388490
NM_022132.5(MCCC2):c.1150-4A>G rs2530853356
NM_022132.5(MCCC2):c.1173C>T (p.Cys391=) rs2112463698
NM_022132.5(MCCC2):c.117T>C (p.Ser39=) rs2530684796
NM_022132.5(MCCC2):c.1195C>T (p.Leu399=) rs2112463773
NM_022132.5(MCCC2):c.1200C>T (p.Phe400=) rs1052530464
NM_022132.5(MCCC2):c.1203T>G (p.Leu401=) rs2530853485
NM_022132.5(MCCC2):c.1217-10T>G rs2112467673
NM_022132.5(MCCC2):c.1217-16C>G rs772467591
NM_022132.5(MCCC2):c.1217-19T>C rs967358781
NM_022132.5(MCCC2):c.1217-6_1217-3del rs2530857804
NM_022132.5(MCCC2):c.1269C>T (p.Ala423=) rs1747359129
NM_022132.5(MCCC2):c.1284T>C (p.Ala428=) rs752877391
NM_022132.5(MCCC2):c.129+10G>A rs1744813637
NM_022132.5(MCCC2):c.129+16C>T rs1339159559
NM_022132.5(MCCC2):c.129+7T>C rs1282794510
NM_022132.5(MCCC2):c.1290C>A (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.1290C>G (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.1290C>T (p.Ala430=) rs1407751176
NM_022132.5(MCCC2):c.130-16T>C rs1745036729
NM_022132.5(MCCC2):c.130-20C>A rs1745036436
NM_022132.5(MCCC2):c.1338A>T (p.Gly446=) rs2530858219
NM_022132.5(MCCC2):c.1368A>T (p.Ala456=) rs10064079
NM_022132.5(MCCC2):c.1373+16T>G rs2530858358
NM_022132.5(MCCC2):c.1374-15C>T rs767663745
NM_022132.5(MCCC2):c.1437C>G (p.Ala479=)
NM_022132.5(MCCC2):c.1470A>G (p.Arg490=) rs758144158
NM_022132.5(MCCC2):c.1488+11T>C rs2530860188
NM_022132.5(MCCC2):c.1488+18T>G rs2530860201
NM_022132.5(MCCC2):c.1488+8T>A rs2530860170
NM_022132.5(MCCC2):c.1488+9C>G rs1561848361
NM_022132.5(MCCC2):c.1488+9C>T rs1561848361
NM_022132.5(MCCC2):c.1489-10T>C rs2530863958
NM_022132.5(MCCC2):c.1489-16G>A rs1747467303
NM_022132.5(MCCC2):c.1489-5T>C rs2530863969
NM_022132.5(MCCC2):c.1494C>T (p.Ser498=) rs1580334193
NM_022132.5(MCCC2):c.1545G>A (p.Glu515=) rs140220101
NM_022132.5(MCCC2):c.1548A>G (p.Glu516=) rs1315911728
NM_022132.5(MCCC2):c.156A>G (p.Leu52=) rs2530700854
NM_022132.5(MCCC2):c.1572A>G (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1572A>T (p.Ala524=) rs886060738
NM_022132.5(MCCC2):c.1574+15A>G rs1259230599
NM_022132.5(MCCC2):c.1574+7G>T rs766044711
NM_022132.5(MCCC2):c.1575-10C>T rs1303395410
NM_022132.5(MCCC2):c.1575-5G>T rs924068629
NM_022132.5(MCCC2):c.1602A>G (p.Pro534=) rs2112478257
NM_022132.5(MCCC2):c.1629C>G (p.Leu543=) rs764970690
NM_022132.5(MCCC2):c.1629C>T (p.Leu543=) rs764970690
NM_022132.5(MCCC2):c.1638T>C (p.Ser546=) rs1483348581
NM_022132.5(MCCC2):c.175C>A (p.Arg59=) rs760881963
NM_022132.5(MCCC2):c.183G>A (p.Glu61=) rs1745040686
NM_022132.5(MCCC2):c.196+11C>G
NM_022132.5(MCCC2):c.196+18_196+19insATTAAGTAA rs1745041938
NM_022132.5(MCCC2):c.196+19C>A rs1745042042
NM_022132.5(MCCC2):c.197-7A>G rs2530711764
NM_022132.5(MCCC2):c.197-9C>G rs2112293394
NM_022132.5(MCCC2):c.210A>G (p.Lys70=) rs2112293469
NM_022132.5(MCCC2):c.237A>G (p.Gly79=) rs2112293709
NM_022132.5(MCCC2):c.246G>A (p.Leu82=) rs1427801007
NM_022132.5(MCCC2):c.252A>G (p.Arg84=) rs1295786119
NM_022132.5(MCCC2):c.264C>T (p.Asp88=) rs1231596830
NM_022132.5(MCCC2):c.279A>T (p.Pro93=) rs1554133471
NM_022132.5(MCCC2):c.281+10T>G rs778134175
NM_022132.5(MCCC2):c.281+14C>T rs2530712473
NM_022132.5(MCCC2):c.282-9T>C rs1464131809
NM_022132.5(MCCC2):c.321G>A (p.Gln107=) rs2112308941
NM_022132.5(MCCC2):c.324A>G (p.Leu108=) rs2112308948
NM_022132.5(MCCC2):c.342G>A (p.Val114=) rs1343360682
NM_022132.5(MCCC2):c.384-8C>G rs2112319784
NM_022132.5(MCCC2):c.384-9G>A rs2112319771
NM_022132.5(MCCC2):c.423A>G (p.Lys141=) rs1745480499
NM_022132.5(MCCC2):c.45C>T (p.Ala15=) rs904181196
NM_022132.5(MCCC2):c.468C>T (p.Ala156=) rs781129100
NM_022132.5(MCCC2):c.477T>C (p.Ile159=)
NM_022132.5(MCCC2):c.489C>T (p.Asn163=) rs774803841
NM_022132.5(MCCC2):c.511+10del rs2530734012
NM_022132.5(MCCC2):c.511+11A>C rs1745487565
NM_022132.5(MCCC2):c.511+14G>T rs1429351862
NM_022132.5(MCCC2):c.511+20A>G rs1745488287
NM_022132.5(MCCC2):c.512-14T>A rs765487963
NM_022132.5(MCCC2):c.512-19T>G rs2530740004
NM_022132.5(MCCC2):c.528A>T (p.Ala176=) rs753733837
NM_022132.5(MCCC2):c.531C>T (p.Tyr177=) rs2530740266
NM_022132.5(MCCC2):c.537T>A (p.Pro179=) rs1275219211
NM_022132.5(MCCC2):c.540A>G (p.Arg180=) rs2112328806
NM_022132.5(MCCC2):c.54C>G (p.Ala18=) rs747327321
NM_022132.5(MCCC2):c.54C>T (p.Ala18=) rs747327321
NM_022132.5(MCCC2):c.567C>T (p.Asp189=) rs575600077
NM_022132.5(MCCC2):c.57G>C (p.Gly19=) rs2530684305
NM_022132.5(MCCC2):c.60G>C (p.Pro20=) rs2530684349
NM_022132.5(MCCC2):c.618T>C (p.Ile206=) rs2112329401
NM_022132.5(MCCC2):c.624+10C>A rs2112329449
NM_022132.5(MCCC2):c.624+15A>C rs2530741119
NM_022132.5(MCCC2):c.624+15A>G rs2530741119
NM_022132.5(MCCC2):c.625-15G>A rs2530808412
NM_022132.5(MCCC2):c.625-19T>C rs2530808403
NM_022132.5(MCCC2):c.630A>C (p.Ala210=) rs760020328
NM_022132.5(MCCC2):c.630A>G (p.Ala210=) rs760020328
NM_022132.5(MCCC2):c.663C>A (p.Ala221=) rs978623277
NM_022132.5(MCCC2):c.663C>T (p.Ala221=) rs978623277
NM_022132.5(MCCC2):c.672T>C (p.Pro224=) rs1337800475
NM_022132.5(MCCC2):c.690C>T (p.Asn230=) rs2530808770
NM_022132.5(MCCC2):c.699A>G (p.Val233=) rs2112412515
NM_022132.5(MCCC2):c.708G>A (p.Gln236=) rs2112412564
NM_022132.5(MCCC2):c.711T>C (p.Gly237=)
NM_022132.5(MCCC2):c.714C>T (p.Thr238=) rs200849501
NM_022132.5(MCCC2):c.720C>T (p.Phe240=) rs201655594
NM_022132.5(MCCC2):c.726A>G (p.Ala242=) rs2112412678
NM_022132.5(MCCC2):c.738+11A>G rs2530809048
NM_022132.5(MCCC2):c.738+8C>A rs1746541390
NM_022132.5(MCCC2):c.739-11C>G
NM_022132.5(MCCC2):c.739-4G>T rs2530820809
NM_022132.5(MCCC2):c.739-7G>C rs765082065
NM_022132.5(MCCC2):c.739-9T>C rs1746737626
NM_022132.5(MCCC2):c.753T>G (p.Thr251=) rs3736398
NM_022132.5(MCCC2):c.765A>G (p.Val255=) rs1405840387
NM_022132.5(MCCC2):c.795T>G (p.Leu265=) rs2530821079
NM_022132.5(MCCC2):c.803+13T>C rs2530821161
NM_022132.5(MCCC2):c.803+14G>T rs1208491329
NM_022132.5(MCCC2):c.803+7C>T rs1561840847
NM_022132.5(MCCC2):c.803+9_803+10del rs1561840849
NM_022132.5(MCCC2):c.822C>T (p.Asp274=) rs2112437391
NM_022132.5(MCCC2):c.861T>A (p.Thr287=) rs1171847854
NM_022132.5(MCCC2):c.861T>C (p.Thr287=) rs1171847854
NM_022132.5(MCCC2):c.861T>G (p.Thr287=) rs1171847854
NM_022132.5(MCCC2):c.879T>C (p.Asn293=) rs753100774
NM_022132.5(MCCC2):c.882A>G (p.Leu294=) rs2530828510
NM_022132.5(MCCC2):c.888T>C (p.Tyr296=) rs2530828542
NM_022132.5(MCCC2):c.898T>C (p.Leu300=) rs1746869158
NM_022132.5(MCCC2):c.903+13T>C rs2530828682
NM_022132.5(MCCC2):c.903+19T>C
NM_022132.5(MCCC2):c.904-10A>G rs1746872931
NM_022132.5(MCCC2):c.904-15T>C rs759973458
NM_022132.5(MCCC2):c.904-16A>G rs2530828951
NM_022132.5(MCCC2):c.90G>A (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.90G>C (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.945T>C (p.Asp315=) rs747973684
NM_022132.5(MCCC2):c.948A>G (p.Glu316=) rs1456800952
NM_022132.5(MCCC2):c.960A>C (p.Ile320=) rs1746875605
NM_022132.5(MCCC2):c.966T>G (p.Gly322=) rs2530829334
NM_022132.5(MCCC2):c.987T>C (p.Phe329=) rs2112438541
NM_022132.5(MCCC2):c.9C>A (p.Ala3=) rs2530683881

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