ClinVar Miner

List of variants reported as likely pathogenic for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Baylor Genetics

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Total variants: 81
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_022132.5(MCCC2):c.384-20A>G rs770917710 0.00005
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala) rs277995 0.00005
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_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00003
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.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.691A>T (p.Ile231Phe) rs531567604 0.00001
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
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.1149+1G>A rs2112460011
NM_022132.5(MCCC2):c.1150-2A>G
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.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.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.518C>A (p.Ser173Ter)
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter)
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.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.990_996dup (p.Glu333fs)

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