ClinVar Miner

List of variants in gene MCCC1 reported as uncertain significance

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Total variants: 152
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HGVS dbSNP
GRCh37/hg19 3q27.1(chr3:182746355-182804565)x1
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.*1A>T rs115605600
NM_020166.5(MCCC1):c.*45A>T rs186406584
NM_020166.5(MCCC1):c.*6A>C
NM_020166.5(MCCC1):c.*90G>A
NM_020166.5(MCCC1):c.-23C>T rs374636986
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.1115A>C (p.Gln372Pro)
NM_020166.5(MCCC1):c.1139A>C (p.His380Pro) rs794727036
NM_020166.5(MCCC1):c.1140T>G (p.His380Gln)
NM_020166.5(MCCC1):c.1147G>A (p.Glu383Lys)
NM_020166.5(MCCC1):c.1153A>G (p.Arg385Gly) rs1553854969
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.1259T>C (p.Val420Ala)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1268-7A>G
NM_020166.5(MCCC1):c.1270G>A (p.Asp424Asn)
NM_020166.5(MCCC1):c.1281C>T (p.Ser427=) rs763713221
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
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.130G>T (p.Ala44Ser)
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.131C>T (p.Ala44Val) rs200673204
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.1339G>A (p.Ala447Thr) rs546480708
NM_020166.5(MCCC1):c.1339G>T (p.Ala447Ser) rs546480708
NM_020166.5(MCCC1):c.1366C>T (p.Arg456Cys)
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
NM_020166.5(MCCC1):c.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.5(MCCC1):c.1399A>T (p.Ile467Phe) rs727504003
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1565T>C (p.Met522Thr)
NM_020166.5(MCCC1):c.156C>A (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1570G>A (p.Asp524Asn)
NM_020166.5(MCCC1):c.1595A>G (p.Asp532Gly) rs756076414
NM_020166.5(MCCC1):c.161T>C (p.Ile54Thr) rs796051987
NM_020166.5(MCCC1):c.1632A>C (p.Arg544Ser) rs1553853001
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) rs762639338
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.1709A>G (p.His570Arg)
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
NM_020166.5(MCCC1):c.1722T>C (p.Tyr574=)
NM_020166.5(MCCC1):c.1724G>A (p.Ser575Asn) rs886058206
NM_020166.5(MCCC1):c.1730A>G (p.Gln577Arg) rs749473644
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
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.1839C>A (p.Ile613=) rs201782543
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.1894C>T (p.Pro632Ser) rs142867987
NM_020166.5(MCCC1):c.1941C>T (p.Gly647=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.197G>A (p.Arg66His)
NM_020166.5(MCCC1):c.1994G>A (p.Gly665Glu) rs903196916
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2024T>C (p.Met675Thr)
NM_020166.5(MCCC1):c.2030T>G (p.Met677Arg) rs1553849443
NM_020166.5(MCCC1):c.2035G>A (p.Ala679Thr)
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.2056A>G (p.Ile686Val)
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
NM_020166.5(MCCC1):c.2123dup (p.His708fs) rs1404350628
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) 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.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.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
NM_020166.5(MCCC1):c.320A>G (p.Tyr107Cys) rs144872258
NM_020166.5(MCCC1):c.328A>G (p.Met110Val)
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.362C>T (p.Ala121Val)
NM_020166.5(MCCC1):c.370-16T>G
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
NM_020166.5(MCCC1):c.388G>A (p.Gly130Ser) rs202197951
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
NM_020166.5(MCCC1):c.455C>T (p.Pro152Leu)
NM_020166.5(MCCC1):c.492-4A>G
NM_020166.5(MCCC1):c.530T>C (p.Val177Ala)
NM_020166.5(MCCC1):c.535G>A (p.Glu179Lys) rs201758122
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635
NM_020166.5(MCCC1):c.596G>T (p.Gly199Val)
NM_020166.5(MCCC1):c.608T>C (p.Met203Thr)
NM_020166.5(MCCC1):c.623G>A (p.Arg208Gln) rs780352053
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+13A>G rs140342772
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.641G>A (p.Gly214Glu) rs1248070890
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004
NM_020166.5(MCCC1):c.711G>T (p.Lys237Asn)
NM_020166.5(MCCC1):c.71G>C (p.Ser24Thr)
NM_020166.5(MCCC1):c.729T>C (p.Ala243=) rs886058208
NM_020166.5(MCCC1):c.730A>G (p.Met244Val)
NM_020166.5(MCCC1):c.758C>T (p.Pro253Leu) rs202083272
NM_020166.5(MCCC1):c.762G>C (p.Arg254Ser)
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.829A>G (p.Ser277Gly)
NM_020166.5(MCCC1):c.83C>T (p.Pro28Leu) rs1164035251
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.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.877G>A (p.Gly293Ser)
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
NM_020166.5(MCCC1):c.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139
NM_020166.5(MCCC1):c.994T>G (p.Cys332Gly) rs886058207
NM_020166.5(MCCC1):c.9G>A (p.Ala3=)

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