ClinVar Miner

List of variants in gene MCCC1 reported as uncertain significance by Invitae

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Total variants: 88
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HGVS dbSNP
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.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.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.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.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
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.137-10T>G rs1560281403
NM_020166.5(MCCC1):c.137G>A (p.Gly46Glu) rs199517715
NM_020166.5(MCCC1):c.1422_1426delinsAA (p.Gly475_His476delinsAsn) rs1560219885
NM_020166.5(MCCC1):c.1444G>A (p.Gly482Arg)
NM_020166.5(MCCC1):c.1554G>A (p.Lys518=)
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
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.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1703A>G (p.Tyr568Cys) rs1577245387
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
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.1808A>G (p.Asn603Ser)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
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.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.2123dup (p.His708fs) rs1404350628
NM_020166.5(MCCC1):c.245C>G (p.Ala82Gly) rs1577363370
NM_020166.5(MCCC1):c.247G>C (p.Asp83His)
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.295G>A (p.Gly99Ser) rs375244642
NM_020166.5(MCCC1):c.295G>C (p.Gly99Arg) rs375244642
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.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.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.626G>A (p.Gly209Asp) rs186209189
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771
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.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.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.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.950G>C (p.Gly317Ala) rs1577295874
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139

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