ClinVar Miner

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

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818 0.00137
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278 0.00082
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247 0.00075
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.995G>A (p.Arg332Gln) rs144203670 0.00045
NM_022132.5(MCCC2):c.1208A>G (p.Asn403Ser) rs142887940 0.00016
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987 0.00015
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_022132.5(MCCC2):c.746C>T (p.Ala249Val) rs141676987 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.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_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914 0.00004
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00004
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala) rs182830931 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met) rs776138490 0.00003
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=) rs749406136 0.00003
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951 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_022132.5(MCCC2):c.1549G>A (p.Gly517Arg) rs979584886 0.00002
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00002
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.1703A>G (p.Tyr568Cys) rs1577245387 0.00001
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834 0.00001
NM_020166.5(MCCC1):c.640-2A>G rs772395858 0.00001
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004 0.00001
NM_020166.5(MCCC1):c.793C>T (p.His265Tyr) rs767642062 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu) rs758506791 0.00001
NM_022132.5(MCCC2):c.1367C>T (p.Ala456Val) rs727504011 0.00001
NM_022132.5(MCCC2):c.281+5G>A rs944539388 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.578G>A (p.Arg193His) rs535519604 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.1126del (p.Thr376fs)
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.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1363del (p.Leu455fs) rs796051986
NM_020166.5(MCCC1):c.1394C>T (p.Thr465Ile) rs1000891879
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
NM_020166.5(MCCC1):c.1679del (p.Asn560fs)
NM_020166.5(MCCC1):c.1731+1del
NM_020166.5(MCCC1):c.1732-1G>T rs763877330
NM_020166.5(MCCC1):c.1732-2A>C
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys) rs1717925328
NM_020166.5(MCCC1):c.321C>A (p.Tyr107Ter)
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) rs761110034
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.639+5G>C
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.664C>T (p.Gln222Ter)
NM_020166.5(MCCC1):c.700_701del (p.Glu234fs)
NM_020166.5(MCCC1):c.761+1G>A
NM_020166.5(MCCC1):c.860AGG[1] (p.Glu288del)
NM_020166.5(MCCC1):c.90-1G>C rs1718608300
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_022132.5(MCCC2):c.1081C>T (p.Arg361Ter) rs763293192
NM_022132.5(MCCC2):c.1149+1G>T rs2112460011
NM_022132.5(MCCC2):c.1184_1192delinsGCATTTGAAGAAA (p.Asn395_Leu398delinsSerIleTer)
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr)
NM_022132.5(MCCC2):c.1208del (p.Asn403fs)
NM_022132.5(MCCC2):c.1216+2T>A rs1554138265
NM_022132.5(MCCC2):c.129+1G>T rs1744812773
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1657dup (p.Ile553fs)
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963
NM_022132.5(MCCC2):c.231_232del (p.Gly79fs)
NM_022132.5(MCCC2):c.253G>T (p.Glu85Ter)
NM_022132.5(MCCC2):c.327T>A (p.Tyr109Ter)
NM_022132.5(MCCC2):c.351_353del (p.Gly118del) rs758794885
NM_022132.5(MCCC2):c.433T>C (p.Tyr145His) rs1745481314
NM_022132.5(MCCC2):c.511+2C>T
NM_022132.5(MCCC2):c.517dup (p.Ser173fs) rs587776533
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.659G>A (p.Gly220Glu)
NM_022132.5(MCCC2):c.671C>T (p.Pro224Leu)
NM_022132.5(MCCC2):c.685G>T (p.Glu229Ter)
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022132.5(MCCC2):c.693C>G (p.Ile231Met) rs991996366
NM_022132.5(MCCC2):c.843_844delinsCTTTGGATCACTTTGG (p.His282fs)

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