ClinVar Miner

List of variants in gene MCCC1 reported by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 253
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HGVS dbSNP
NC_000003.11:g.(?_182733206)_(182733374_?)del
NC_000003.11:g.(?_182810187)_(182810343_?)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.(?_183092399)_(183094615_?)dup
NM_020166.5(MCCC1):c.1023A>G (p.Gln341=)
NM_020166.5(MCCC1):c.1040C>A (p.Thr347Asn)
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
NM_020166.5(MCCC1):c.1067T>C (p.Val356Ala)
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1083+10T>A
NM_020166.5(MCCC1):c.1083+9A>T
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1108T>C (p.Leu370=)
NM_020166.5(MCCC1):c.1113C>T (p.Ser371=)
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1115A>C (p.Gln372Pro)
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
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.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1203A>G (p.Pro401=)
NM_020166.5(MCCC1):c.1205T>G (p.Leu402Ter)
NM_020166.5(MCCC1):c.1210dup (p.His404fs) rs1577276144
NM_020166.5(MCCC1):c.1212C>T (p.His404=)
NM_020166.5(MCCC1):c.1216T>C (p.Ser406Pro)
NM_020166.5(MCCC1):c.1222C>T (p.Pro408Ser) rs1560224165
NM_020166.5(MCCC1):c.1223C>T (p.Pro408Leu) rs1577276072
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.5(MCCC1):c.1233C>T (p.Asp411=)
NM_020166.5(MCCC1):c.123C>A (p.Tyr41Ter)
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.1267+9A>G
NM_020166.5(MCCC1):c.1268-1G>A rs1191868168
NM_020166.5(MCCC1):c.1268-2A>G
NM_020166.5(MCCC1):c.1268-7A>G
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
NM_020166.5(MCCC1):c.1272C>T (p.Asp424=)
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365
NM_020166.5(MCCC1):c.1304C>T (p.Ala435Val) rs1232970567
NM_020166.5(MCCC1):c.1305G>A (p.Ala435=)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.5(MCCC1):c.1317G>A (p.Val439=)
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.1338G>A (p.Ala446=) rs373049854
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.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.136+7A>G rs559629034
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys)
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.5(MCCC1):c.1386A>G (p.Gly462=)
NM_020166.5(MCCC1):c.138A>C (p.Gly46=)
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968
NM_020166.5(MCCC1):c.1401T>C (p.Ile467=) rs763803301
NM_020166.5(MCCC1):c.1410A>G (p.Leu470=)
NM_020166.5(MCCC1):c.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1417C>T (p.Leu473=)
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.1431A>G (p.Pro477=)
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
NM_020166.5(MCCC1):c.1449C>T (p.Asn483=)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1458T>C (p.Thr486=)
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.1522_1544del (p.Leu508fs)
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.156C>T (p.Val52=)
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
NM_020166.5(MCCC1):c.1595-1G>C rs1337201010
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) rs756076414
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1614G>T (p.Ser538=)
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987
NM_020166.5(MCCC1):c.1623T>C (p.Ser541=)
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.165A>G (p.Ala55=)
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1681+9T>C
NM_020166.5(MCCC1):c.1695T>C (p.Ala565=) rs1577245424
NM_020166.5(MCCC1):c.1701G>A (p.Thr567=) rs377320336
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_020166.5(MCCC1):c.171_172del (p.Gly58fs) rs1311374961
NM_020166.5(MCCC1):c.1722T>G (p.Tyr574Ter)
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) rs749473644
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1732-1G>T
NM_020166.5(MCCC1):c.1732-9T>A rs370660849
NM_020166.5(MCCC1):c.1749C>T (p.Phe583=)
NM_020166.5(MCCC1):c.1761T>C (p.Gly587=)
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) rs200025893
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
NM_020166.5(MCCC1):c.1772G>A (p.Ser591Asn) rs569721834
NM_020166.5(MCCC1):c.1773C>T (p.Ser591=) rs200651846
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1808A>G (p.Asn603Ser)
NM_020166.5(MCCC1):c.1819_1832del (p.Ser607fs) rs1553850609
NM_020166.5(MCCC1):c.1827G>A (p.Ala609=)
NM_020166.5(MCCC1):c.1833G>T (p.Leu611=) rs747354023
NM_020166.5(MCCC1):c.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.183C>T (p.Ala61=)
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.1851T>C (p.Thr617=) rs1577239619
NM_020166.5(MCCC1):c.1864del (p.Ser622fs)
NM_020166.5(MCCC1):c.189G>A (p.Arg63=) rs753180751
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.192G>A (p.Val64=) rs1360164882
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.1937del (p.Gln646fs)
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys) rs754460336
NM_020166.5(MCCC1):c.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.1977+7A>G
NM_020166.5(MCCC1):c.1978-8del
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu) rs903196916
NM_020166.5(MCCC1):c.1A>G (p.Met1Val) rs762463914
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2010G>A (p.Ala670=)
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2034C>T (p.Ile678=) rs150305281
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
NM_020166.5(MCCC1):c.2049+10T>C
NM_020166.5(MCCC1):c.2049+9A>G
NM_020166.5(MCCC1):c.2051A>G (p.His684Arg) rs1553848994
NM_020166.5(MCCC1):c.2056A>G (p.Ile686Val)
NM_020166.5(MCCC1):c.2079A>T (p.Thr693=)
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.2082A>G (p.Val694=)
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.2136C>T (p.Val712=)
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
NM_020166.5(MCCC1):c.2172G>A (p.Ser724=)
NM_020166.5(MCCC1):c.219A>C (p.Val73=)
NM_020166.5(MCCC1):c.227_228del (p.Val76fs)
NM_020166.5(MCCC1):c.231G>A (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.231G>T (p.Ala77=) rs144230304
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
NM_020166.5(MCCC1):c.254A>C (p.Asn85Thr) rs148616219
NM_020166.5(MCCC1):c.256T>C (p.Ser86Pro)
NM_020166.5(MCCC1):c.267A>C (p.Val89=) rs369138447
NM_020166.5(MCCC1):c.272T>C (p.Met91Thr)
NM_020166.5(MCCC1):c.280G>A (p.Glu94Lys)
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.295G>A (p.Gly99Ser) rs375244642
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
NM_020166.5(MCCC1):c.2T>C (p.Met1Thr)
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.313C>T (p.Gln105Ter)
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) rs144872258
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
NM_020166.5(MCCC1):c.343C>T (p.Gln115Ter) rs920162850
NM_020166.5(MCCC1):c.350C>A (p.Ala117Asp) rs754963220
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.384A>C (p.Gly128=)
NM_020166.5(MCCC1):c.387C>A (p.Cys129Ter)
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.411A>G (p.Glu137=)
NM_020166.5(MCCC1):c.425_427delinsAC (p.Cys142fs)
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
NM_020166.5(MCCC1):c.492-7T>C
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122
NM_020166.5(MCCC1):c.54G>A (p.Arg18=) rs1577376491
NM_020166.5(MCCC1):c.556del (p.Gln186fs)
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635
NM_020166.5(MCCC1):c.588G>A (p.Arg196=)
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val)
NM_020166.5(MCCC1):c.603T>C (p.Pro201=)
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
NM_020166.5(MCCC1):c.618C>T (p.Ala206=)
NM_020166.5(MCCC1):c.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771
NM_020166.5(MCCC1):c.639+2T>A rs199914879
NM_020166.5(MCCC1):c.639+5G>T
NM_020166.5(MCCC1):c.640-10T>C
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890
NM_020166.5(MCCC1):c.660A>C (p.Ser220=)
NM_020166.5(MCCC1):c.66C>G (p.Leu22=)
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.678A>G (p.Glu226=) rs1577328315
NM_020166.5(MCCC1):c.682_685del (p.Leu228fs)
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.704del (p.Ala235fs) rs1577328234
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
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.759G>A (p.Pro253=)
NM_020166.5(MCCC1):c.762-2_762-1del
NM_020166.5(MCCC1):c.762-5T>C
NM_020166.5(MCCC1):c.762-9T>C
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
NM_020166.5(MCCC1):c.768A>G (p.Val256=) rs567236851
NM_020166.5(MCCC1):c.78C>T (p.Leu26=)
NM_020166.5(MCCC1):c.81G>A (p.Leu27=) rs1439662567
NM_020166.5(MCCC1):c.829A>G (p.Ser277Gly)
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.842G>A (p.Arg281Gln) rs754437245
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del)
NM_020166.5(MCCC1):c.860A>G (p.Glu287Gly) rs1267237320
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.872del (p.Ala291fs)
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.874-12dup rs755494348
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
NM_020166.5(MCCC1):c.89+1G>C rs771730236
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
NM_020166.5(MCCC1):c.90-1G>C
NM_020166.5(MCCC1):c.90-7G>A
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.956-8C>T rs1577284365
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) rs142513139
NM_020166.5(MCCC1):c.987_988del (p.His329fs) rs1553856095
NM_020166.5(MCCC1):c.99G>A (p.Val33=)

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