ClinVar Miner

List of variants in gene MCCC1 reported as pathogenic for inborn disorder of amino acid and other organic acid metabolism

Included ClinVar conditions (315):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 121
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HGVS dbSNP gnomAD frequency
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_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213 0.00008
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365 0.00007
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_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753 0.00004
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020166.5(MCCC1):c.1074G>A (p.Trp358Ter) rs367625370 0.00001
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.1268-1G>A rs1191868168 0.00001
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352 0.00001
NM_020166.5(MCCC1):c.1483C>T (p.Gln495Ter) rs1713700813 0.00001
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter) rs1163620394 0.00001
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850 0.00001
NM_020166.5(MCCC1):c.539G>T (p.Gly180Val) rs748201122 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_020166.5(MCCC1):c.804del (p.Val269fs) rs1307113234 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.872del (p.Ala291fs) rs748269732 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
NC_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182743523)_(182743612_?)del
NC_000003.11:g.(?_182751759)_(182770048_?)del
NC_000003.11:g.(?_182754986)_(182770048_?)del
NC_000003.11:g.(?_182754986)_(182775230_?)del
NC_000003.11:g.(?_182756794)_(182763348_?)del
NC_000003.11:g.(?_182769927)_(182817228_?)del
NC_000003.11:g.(?_182788836)_(182792878_?)del
NC_000003.11:g.(?_182790144)_(182817385_?)del
NC_000003.11:g.(?_182810187)_(182812403_?)del
NC_000003.11:g.(?_182817140)_(182817228_?)del
NC_000003.12:g.(?_183052139)_(183052260_?)del
NC_000003.12:g.(?_183070989)_(183072497_?)del
NC_000003.12:g.(?_183092389)_(183092565_?)del
NC_000003.12:g.183057423del
NM_020166.5(MCCC1):c.1003G>T (p.Glu335Ter)
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.1132C>T (p.Gln378Ter) rs2108479383
NM_020166.5(MCCC1):c.1133dup (p.His380fs)
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter) rs2108479136
NM_020166.5(MCCC1):c.1210dup (p.His404fs) rs1577276144
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter) rs2108569910
NM_020166.5(MCCC1):c.1254_1255del (p.Gly419fs) rs2108478897
NM_020166.5(MCCC1):c.1257_1263del (p.Val420fs) rs1560224024
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1264C>T (p.Gln422Ter) rs2108478837
NM_020166.5(MCCC1):c.1268-2A>G rs2108474093
NM_020166.5(MCCC1):c.1310T>C (p.Leu437Pro) rs119103215
NM_020166.5(MCCC1):c.1333C>T (p.Gln445Ter) rs1453886049
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1380T>G (p.Ile460Met) rs119103218
NM_020166.5(MCCC1):c.1518del (p.Glu506fs)
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs) rs1713693597
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter) rs1713695107
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
NM_020166.5(MCCC1):c.1594G>C (p.Asp532His) rs119103214
NM_020166.5(MCCC1):c.1604C>T (p.Ser535Phe) rs119103216
NM_020166.5(MCCC1):c.1630del (p.Arg544fs)
NM_020166.5(MCCC1):c.1651A>T (p.Arg551Ter) rs2108461735
NM_020166.5(MCCC1):c.1674dup (p.Lys559Ter)
NM_020166.5(MCCC1):c.1679del (p.Asn560fs)
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter) rs747015041
NM_020166.5(MCCC1):c.1731+1del
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
NM_020166.5(MCCC1):c.1777G>T (p.Gly593Ter)
NM_020166.5(MCCC1):c.1792del (p.Tyr597_Leu598insTer) rs2108441513
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1853_1856del (p.Ile618fs) rs2108441358
NM_020166.5(MCCC1):c.1864del (p.Ser622fs) rs1712230544
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.1908C>G (p.Tyr636Ter) rs1311139055
NM_020166.5(MCCC1):c.1937del (p.Gln646fs) rs1712031289
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.2014del (p.Asp672fs)
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.220C>T (p.Gln74Ter)
NM_020166.5(MCCC1):c.221_224del (p.Gln74fs) rs2108565864
NM_020166.5(MCCC1):c.227_228del (p.Val76fs) rs1718431677
NM_020166.5(MCCC1):c.272del (p.Met91fs)
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
NM_020166.5(MCCC1):c.310C>T (p.Gln104Ter) rs1177891822
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter) rs761110034
NM_020166.5(MCCC1):c.393del (p.Leu132fs)
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs) rs1716766263
NM_020166.5(MCCC1):c.435del (p.Gly146fs) rs1486240538
NM_020166.5(MCCC1):c.448del (p.Phe149_Ile150insTer)
NM_020166.5(MCCC1):c.48del (p.Asn17fs)
NM_020166.5(MCCC1):c.532del (p.Val178fs)
NM_020166.5(MCCC1):c.534_535delinsTT (p.Glu179Ter) rs2108526606
NM_020166.5(MCCC1):c.556del (p.Gln186fs) rs2108526541
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.611_612dup (p.Lys205fs)
NM_020166.5(MCCC1):c.622del (p.Arg208fs)
NM_020166.5(MCCC1):c.635del (p.Gly212fs) rs2108526355
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.658_662del (p.Ser220fs)
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) rs779412317
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs) rs1716637067
NM_020166.5(MCCC1):c.684dup (p.Glu229fs)
NM_020166.5(MCCC1):c.704del (p.Ala235fs) rs1577328234
NM_020166.5(MCCC1):c.739_742delinsATAGCATAGC (p.Glu247_Lys248delinsIleAlaTer) rs1560256569
NM_020166.5(MCCC1):c.762-2A>G
NM_020166.5(MCCC1):c.762-2_762-1del rs2108505736
NM_020166.5(MCCC1):c.827_828del (p.Asp275_Cys276insTer)
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.951_952del (p.Ala318fs) rs2108496973
NM_020166.5(MCCC1):c.960del (p.Val321fs)
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095

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