ClinVar Miner

List of variants studied for 3-methylcrotonyl-CoA carboxylase 2 deficiency by Baylor Genetics

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Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00253
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00059
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg) rs148773718 0.00015
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602 0.00011
NM_022132.5(MCCC2):c.295G>C (p.Glu99Gln) rs119103219 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_022132.5(MCCC2):c.1309A>G (p.Ile437Val) rs119103224 0.00004
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969 0.00004
NM_022132.5(MCCC2):c.518C>T (p.Ser173Leu) rs752866557 0.00003
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00003
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164 0.00003
NM_022132.5(MCCC2):c.1493C>T (p.Ser498Phe) rs757286719 0.00002
NM_022132.5(MCCC2):c.578G>A (p.Arg193His) rs535519604 0.00002
NM_022132.5(MCCC2):c.653C>T (p.Ala218Val) rs760420191 0.00002
NM_022132.5(MCCC2):c.100C>T (p.Gln34Ter) rs1413464990 0.00001
NM_022132.5(MCCC2):c.1064T>A (p.Leu355Ter) rs751393852 0.00001
NM_022132.5(MCCC2):c.1073-12C>G rs1280511914 0.00001
NM_022132.5(MCCC2):c.130-2A>G rs1022880212 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.1488+2T>A rs1747397763 0.00001
NM_022132.5(MCCC2):c.1488G>C (p.Gln496His) rs745367639 0.00001
NM_022132.5(MCCC2):c.1570G>A (p.Ala524Thr) rs774241918 0.00001
NM_022132.5(MCCC2):c.175C>T (p.Arg59Ter) rs760881963 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.538C>T (p.Arg180Ter) rs780011606 0.00001
NM_022132.5(MCCC2):c.562C>T (p.Arg188Ter) rs774180632 0.00001
NM_022132.5(MCCC2):c.592C>T (p.Gln198Ter) rs764286389 0.00001
NM_022132.5(MCCC2):c.688A>G (p.Asn230Asp) rs766753795 0.00001
NM_022132.5(MCCC2):c.691A>T (p.Ile231Phe) rs531567604 0.00001
NM_022132.5(MCCC2):c.826del (p.Trp276fs) rs1440411798 0.00001
NM_022132.5(MCCC2):c.838G>T (p.Asp280Tyr) rs119103226 0.00001
NM_022132.5(MCCC2):c.953A>G (p.Tyr318Cys) rs773115035 0.00001
NM_022132.5(MCCC2):c.994C>T (p.Arg332Ter) rs727504010 0.00001
NM_022132.5(MCCC2):c.1000-2A>G rs2112453728
NM_022132.5(MCCC2):c.1054G>A (p.Gly352Arg) rs765438239
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) rs2530684724
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 rs2530853365
NM_022132.5(MCCC2):c.1154del (p.Thr385fs) rs2112463671
NM_022132.5(MCCC2):c.1208A>C (p.Asn403Thr) rs142887940
NM_022132.5(MCCC2):c.1216+1G>A rs2530853519
NM_022132.5(MCCC2):c.1216+1G>T rs2530853519
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 rs1744812773
NM_022132.5(MCCC2):c.1297C>T (p.Gln433Ter) rs2530858076
NM_022132.5(MCCC2):c.1373+1G>A rs2530858327
NM_022132.5(MCCC2):c.1375C>T (p.Pro459Ser) rs754741111
NM_022132.5(MCCC2):c.1378A>T (p.Arg460Ter) rs2530859869
NM_022132.5(MCCC2):c.1378dup (p.Arg460fs) rs2530859864
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn) rs1391085331
NM_022132.5(MCCC2):c.1559A>G (p.Tyr520Cys) rs150327768
NM_022132.5(MCCC2):c.1574+1G>T rs730880265
NM_022132.5(MCCC2):c.1580G>A (p.Trp527Ter) rs761700756
NM_022132.5(MCCC2):c.1581G>A (p.Trp527Ter) rs2530870567
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1666A>G (p.Thr556Ala) rs1580337435
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 rs2530712355
NM_022132.5(MCCC2):c.281+2T>C rs2530712392
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) rs1554134056
NM_022132.5(MCCC2):c.437dup (p.Tyr146Ter) rs2530733573
NM_022132.5(MCCC2):c.511+2_511+3delinsGG rs2530733986
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) rs752866557
NM_022132.5(MCCC2):c.531C>A (p.Tyr177Ter) rs2530740266
NM_022132.5(MCCC2):c.581del (p.Thr194fs) rs1190325113
NM_022132.5(MCCC2):c.588T>A (p.Tyr196Ter) rs1745585444
NM_022132.5(MCCC2):c.608del (p.Ser203fs) rs2530740954
NM_022132.5(MCCC2):c.625-1G>A rs2530808441
NM_022132.5(MCCC2):c.652G>A (p.Ala218Thr) rs886043524
NM_022132.5(MCCC2):c.689del (p.Asn230fs) rs2112412398
NM_022132.5(MCCC2):c.70del (p.His24fs) rs2530684428
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) rs2530820911
NM_022132.5(MCCC2):c.760G>T (p.Glu254Ter) rs2530820915
NM_022132.5(MCCC2):c.803+1G>A rs2530821118
NM_022132.5(MCCC2):c.803+2T>C rs1746741258
NM_022132.5(MCCC2):c.903+1G>T rs2112437820
NM_022132.5(MCCC2):c.920dup (p.Ser307_Glu308insTer) rs1349001113
NM_022132.5(MCCC2):c.929C>G (p.Pro310Arg) rs119103221
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg) rs1443551700
NM_022132.5(MCCC2):c.990_996dup (p.Glu333fs) rs2530829433

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