ClinVar Miner

List of variants studied for Methylcrotonyl-CoA carboxylase deficiency

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Total variants: 93
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HGVS dbSNP
NM_001363880.1(MCCC1):c.-290G>C rs937652
NM_001363880.1(MCCC1):c.-291C>T rs886058210
NM_001363880.1(MCCC1):c.-292C>A rs543130921
NM_001363880.1(MCCC1):c.-322C>T rs529095789
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
NM_020166.5(MCCC1):c.492-4A>G
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_022132.5(MCCC2):c.*6A>G
NM_022132.5(MCCC2):c.*719del rs886060742
NM_022132.5(MCCC2):c.1014C>T (p.Ile338=) rs760703487
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1065A>T (p.Leu355Phe) rs757052602
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
NM_022132.5(MCCC2):c.1374-10C>T rs766032118
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp)
NM_022132.5(MCCC2):c.1488+10del
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1569C>T (p.Ser523=) rs137961577
NM_022132.5(MCCC2):c.1574+5G>T
NM_022132.5(MCCC2):c.1578A>G (p.Val526=) rs114527907
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=)
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792
NM_022132.5(MCCC2):c.196+3A>G
NM_022132.5(MCCC2):c.258A>G (p.Arg86=)
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile)
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=)
NM_022132.5(MCCC2):c.511+7dup rs200382661
NM_022132.5(MCCC2):c.538C>T (p.Arg180Ter) rs780011606
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670

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