ClinVar Miner

List of variants in gene MCCC1 studied for not provided

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Total variants: 67
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HGVS dbSNP
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1083+185G>A rs13088830
NM_020166.5(MCCC1):c.1084-217G>A rs2292057
NM_020166.5(MCCC1):c.108A>G (p.Gln36=) rs1577367769
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1139A>C (p.His380Pro) rs794727036
NM_020166.5(MCCC1):c.1146C>T (p.Phe382=) rs762544072
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.1225C>T (p.Arg409Ter) rs1484347924
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1268-255A>G rs9861464
NM_020166.5(MCCC1):c.1277T>C (p.Val426Ala) rs398124351
NM_020166.5(MCCC1):c.1315G>A (p.Val439Met) rs398124352
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272
NM_020166.5(MCCC1):c.1356G>A (p.Arg452=) rs1345111200
NM_020166.5(MCCC1):c.1363del (p.Leu455fs) rs796051986
NM_020166.5(MCCC1):c.137-2A>G rs727504006
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.1416C>T (p.Asn472=) rs1560219940
NM_020166.5(MCCC1):c.1486T>C (p.Leu496=) rs768167603
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1527C>A (p.Cys509Ter)
NM_020166.5(MCCC1):c.156C>A (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1682-3A>G rs760180709
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) rs1057520695
NM_020166.5(MCCC1):c.1700C>T (p.Thr567Met) rs762639338
NM_020166.5(MCCC1):c.1731+276G>T rs7640612
NM_020166.5(MCCC1):c.1732-9T>A rs370660849
NM_020166.5(MCCC1):c.1764T>C (p.Asn588=) rs200025893
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1851T>C (p.Thr617=) rs1577239619
NM_020166.5(MCCC1):c.1870-262C>T rs10937106
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.1973_1977+28del rs776641008
NM_020166.5(MCCC1):c.1978-186G>A rs10804888
NM_020166.5(MCCC1):c.1978-287T>A rs10937105
NM_020166.5(MCCC1):c.2050-193A>G rs12486983
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter) rs147741073
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.2085G>A (p.Lys695=) rs762296041
NM_020166.5(MCCC1):c.2085del (p.Val697fs) rs772010858
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.492-222A>G rs6785680
NM_020166.5(MCCC1):c.54G>A (p.Arg18=) rs1577376491
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.559T>C (p.Ser187Pro) rs757362635
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.694C>T (p.Arg232Trp) rs727504004
NM_020166.5(MCCC1):c.762-187G>A rs7646991
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
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.874-239A>G rs62293212
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.956-252C>T rs1502762
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

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