ClinVar Miner

List of variants in gene MCCC1 studied for classic organic aciduria

Included ClinVar conditions (39):
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Gene type:
ClinVar version:
Total variants: 116
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HGVS dbSNP
NC_000003.11:g.(?_182769927)_(182770048_?)del
NM_001293273.1(MCCC1):c.-192G>C rs937652
NM_001293273.1(MCCC1):c.-193C>T rs886058210
NM_001293273.1(MCCC1):c.-194C>A rs543130921
NM_001293273.1(MCCC1):c.-224C>T rs529095789
NM_020166.3(MCCC1):c.640_641delGG (p.Gly214Asnfs) rs886058209
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.*45A>T rs186406584
NM_020166.5(MCCC1):c.-23C>T rs374636986
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1191_1192TG[1] (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1210dup (p.His404fs)
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu)
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-1G>A
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr)
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.5(MCCC1):c.131C>T (p.Ala44Val) rs200673204
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
NM_020166.5(MCCC1):c.1339G>A (p.Ala447Thr) rs546480708
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) rs119103218
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
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)
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) rs119103214
NM_020166.5(MCCC1):c.1595-1G>C
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly)
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) rs119103216
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.169_170AG[1] (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg)
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=)
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser)
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu)
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2050-6_2050-5del rs780558586
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.2088dup (p.Val697fs)
NM_020166.5(MCCC1):c.2123dup (p.His708fs)
NM_020166.5(MCCC1):c.2171C>T (p.Ser724Leu) rs201806708
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.239G>A (p.Ser80Asn) rs774565207
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly)
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser)
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg)
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys)
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter)
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp)
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys)
NM_020166.5(MCCC1):c.558del (p.Gln186fs)
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro)
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp)
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala)
NM_020166.5(MCCC1):c.639+13A>G rs140342772
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter)
NM_020166.5(MCCC1):c.704del (p.Ala235fs)
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.794A>G (p.His265Arg) rs759707763
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu)
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln)
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly)
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.89+1G>C
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala)
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn)
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207

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