ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase deficiency by Baylor Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 203
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00262
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.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 0.00014
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640 0.00012
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
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.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_022132.5(MCCC2):c.384-20A>G rs770917710 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_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336 0.00004
NM_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00004
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164 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_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.639+5G>T rs768630906 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu) rs753650692 0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 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.1315G>A (p.Val439Met) rs398124352 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_020166.5(MCCC1):c.1682-3A>G rs760180709 0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter) rs1163620394 0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val) rs748201122 0.00001
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 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.89+1G>C rs771730236 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg) rs765438239 0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) rs751393852 0.00001
NM_022132.5(MCCC2):c.1342G>A (p.Gly448Arg) rs766045910 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.1488G>C (p.Gln496His) rs745367639 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.302C>T (p.Ser101Phe) rs748028684 0.00001
NM_022132.5(MCCC2):c.383+2del rs1745349463 0.00001
NM_022132.5(MCCC2):c.464G>A (p.Arg155Gln) rs119103220 0.00001
NM_022132.5(MCCC2):c.499T>C (p.Cys167Arg) rs119103222 0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) rs774180632 0.00001
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00001
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) rs764286389 0.00001
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe) rs531567604 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
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1114del (p.Gln372fs)
NM_020166.5(MCCC1):c.1129_1130del (p.Leu377fs) rs1714102462
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-2A>G rs2108474093
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) rs1713693597
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter) rs1713695107
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
NM_020166.5(MCCC1):c.1585C>T (p.Gln529Ter)
NM_020166.5(MCCC1):c.1594+1G>A rs966900131
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1605_1606del (p.Pro536fs)
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
NM_020166.5(MCCC1):c.1663_1664dup (p.Lys556fs)
NM_020166.5(MCCC1):c.1669delinsAA (p.Asp557fs)
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1681+5G>A
NM_020166.5(MCCC1):c.1682-1G>A
NM_020166.5(MCCC1):c.1699_1703del (p.Val566_Thr567insTer)
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1729C>T (p.Gln577Ter)
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
NM_020166.5(MCCC1):c.1750_1756del (p.Gln584fs)
NM_020166.5(MCCC1):c.1782C>G (p.Asp594Glu)
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer) rs2108441513
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) rs1712230544
NM_020166.5(MCCC1):c.1869+1G>A
NM_020166.5(MCCC1):c.1870-2A>G
NM_020166.5(MCCC1):c.1873G>T (p.Gly625Ter)
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
NM_020166.5(MCCC1):c.1898del (p.Val633fs)
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter) rs1311139055
NM_020166.5(MCCC1):c.191_192del (p.Val64fs)
NM_020166.5(MCCC1):c.2000_2001del (p.Lys667fs)
NM_020166.5(MCCC1):c.2050-2A>C
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.210_211insT (p.Leu71fs)
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) rs1718431677
NM_020166.5(MCCC1):c.300del (p.Ala101fs)
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys) rs1177891822
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter) rs1177891822
NM_020166.5(MCCC1):c.341_344del (p.Ile114fs)
NM_020166.5(MCCC1):c.367C>T (p.Gln123Ter)
NM_020166.5(MCCC1):c.386G>A (p.Cys129Tyr)
NM_020166.5(MCCC1):c.435del (p.Gly146fs) rs1486240538
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter) rs2108526606
NM_020166.5(MCCC1):c.548del (p.Gly183fs)
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
NM_020166.5(MCCC1):c.635del (p.Gly212fs) rs2108526355
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.640_641delGG rs886058209
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.684dup (p.Glu229fs)
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)
NM_020166.5(MCCC1):c.716_720del (p.Ser238_Phe239insTer)
NM_020166.5(MCCC1):c.761+1G>A
NM_020166.5(MCCC1):c.823_824del (p.Asp275fs)
NM_020166.5(MCCC1):c.826T>C (p.Cys276Arg)
NM_020166.5(MCCC1):c.866C>T (p.Ala289Val)
NM_020166.5(MCCC1):c.89+2_89+4del
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.955+1G>A rs1340827377
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter)
NM_022132.5(MCCC2):c.1073-12C>G
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) rs763293192
NM_022132.5(MCCC2):c.1103del (p.Gly368fs) rs756218448
NM_022132.5(MCCC2):c.110T>A (p.Leu37Ter)
NM_022132.5(MCCC2):c.1144_1147inv (p.Lys382_Lys383delinsPheTer)
NM_022132.5(MCCC2):c.1149+1G>A rs2112460011
NM_022132.5(MCCC2):c.1149+1G>T rs2112460011
NM_022132.5(MCCC2):c.1150-2A>G
NM_022132.5(MCCC2):c.1154del (p.Thr385fs)
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
NM_022132.5(MCCC2):c.1216+1G>A
NM_022132.5(MCCC2):c.1216+1G>T
NM_022132.5(MCCC2):c.1216+2T>A rs1554138265
NM_022132.5(MCCC2):c.1216+2T>C rs1554138265
NM_022132.5(MCCC2):c.127C>T (p.Gln43Ter) rs2112251855
NM_022132.5(MCCC2):c.129+1G>A
NM_022132.5(MCCC2):c.1297C>T (p.Gln433Ter)
NM_022132.5(MCCC2):c.130-2A>G
NM_022132.5(MCCC2):c.1373+1G>A
NM_022132.5(MCCC2):c.1375C>T (p.Pro459Ser)
NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter)
NM_022132.5(MCCC2):c.1378dup (p.Arg460fs)
NM_022132.5(MCCC2):c.1488+2T>A
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe)
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn) rs1391085331
NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys)
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr)
NM_022132.5(MCCC2):c.1574+1G>T rs730880265
NM_022132.5(MCCC2):c.1580G>A (p.Trp527Ter)
NM_022132.5(MCCC2):c.1581G>A (p.Trp527Ter)
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1666A>G (p.Thr556Ala)
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963
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.214C>T (p.Arg72Ter) rs147903984
NM_022132.5(MCCC2):c.281+1del
NM_022132.5(MCCC2):c.281+2T>C
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022132.5(MCCC2):c.384-2A>G rs1745476784
NM_022132.5(MCCC2):c.435C>G (p.Tyr145Ter)
NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter)
NM_022132.5(MCCC2):c.511+2_511+3delinsGG
NM_022132.5(MCCC2):c.512-1G>A rs1282502867
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.518C>A (p.Ser173Ter)
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.581del (p.Thr194fs) rs1190325113
NM_022132.5(MCCC2):c.588T>A (p.Tyr196Ter)
NM_022132.5(MCCC2):c.608del (p.Ser203fs)
NM_022132.5(MCCC2):c.625-1G>A
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022132.5(MCCC2):c.70del (p.His24fs)
NM_022132.5(MCCC2):c.735dup (p.Val247fs) rs770769655
NM_022132.5(MCCC2):c.739-2A>G rs2112427637
NM_022132.5(MCCC2):c.739del rs1463802125
NM_022132.5(MCCC2):c.759_760delinsC (p.Glu253fs)
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter)
NM_022132.5(MCCC2):c.803+1G>A
NM_022132.5(MCCC2):c.803+2T>C
NM_022132.5(MCCC2):c.826del (p.Trp276fs)
NM_022132.5(MCCC2):c.903+1G>T rs2112437820
NM_022132.5(MCCC2):c.920dup (p.Ser307_Glu308insTer)
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.953A>G (p.Tyr318Cys)
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs)

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