ClinVar Miner

List of variants in gene MCCC1 reported by GeneDx

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Gene type:
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Total variants: 56
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HGVS dbSNP
NM_020166.5(MCCC1):c.*15_*40del rs752394015
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.-24A>G rs11540930
NM_020166.5(MCCC1):c.-25C>A rs149741951
NM_020166.5(MCCC1):c.-42C>T rs887059444
NM_020166.5(MCCC1):c.-43_-40del rs745677822
NM_020166.5(MCCC1):c.1083+10dup rs377092260
NM_020166.5(MCCC1):c.1083+185G>A rs13088830
NM_020166.5(MCCC1):c.1084-217G>A rs2292057
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.1268-255A>G rs9861464
NM_020166.5(MCCC1):c.1330C>T (p.Arg444Cys) rs375996272
NM_020166.5(MCCC1):c.1338G>A (p.Ala446=) rs373049854
NM_020166.5(MCCC1):c.1341A>G (p.Ala447=) rs757687424
NM_020166.5(MCCC1):c.136+19G>T rs1057522772
NM_020166.5(MCCC1):c.136+7A>G rs559629034
NM_020166.5(MCCC1):c.1363del (p.Leu455fs) rs796051986
NM_020166.5(MCCC1):c.137-2A>G rs727504006
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268
NM_020166.5(MCCC1):c.156C>A (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281
NM_020166.5(MCCC1):c.1682-3A>G rs760180709
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) rs1057520695
NM_020166.5(MCCC1):c.1731+276G>T rs7640612
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1732-9T>A rs370660849
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1860A>G (p.Leu620=) rs1057521696
NM_020166.5(MCCC1):c.1870-262C>T rs10937106
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.1941C>A (p.Gly647=) rs199528231
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.2085del (p.Val697fs) rs772010858
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839
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.267A>C (p.Val89=) rs369138447
NM_020166.5(MCCC1):c.359C>T (p.Ser120Phe) rs1307589698
NM_020166.5(MCCC1):c.438A>G (p.Gly146=) rs139987877
NM_020166.5(MCCC1):c.492-222A>G rs6785680
NM_020166.5(MCCC1):c.676G>T (p.Glu226Ter) rs1553862845
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.762-187G>A rs7646991
NM_020166.5(MCCC1):c.874-12dup rs755494348
NM_020166.5(MCCC1):c.874-239A>G rs62293212
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.956-252C>T rs1502762
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977

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