ClinVar Miner

List of variants in gene MCCC1 reported as likely benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 23
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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.-42C>T rs887059444
NM_020166.5(MCCC1):c.-43_-40del rs745677822
NM_020166.5(MCCC1):c.1083+10dup rs377092260
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.156C>A (p.Val52=) rs398124353
NM_020166.5(MCCC1):c.1731+6C>A rs369754994
NM_020166.5(MCCC1):c.1732-9T>A rs370660849
NM_020166.5(MCCC1):c.1860A>G (p.Leu620=) rs1057521696
NM_020166.5(MCCC1):c.1941C>A (p.Gly647=) rs199528231
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.438A>G (p.Gly146=) rs139987877
NM_020166.5(MCCC1):c.69G>C (p.Pro23=) rs567116244
NM_020166.5(MCCC1):c.738C>T (p.Ile246=) rs766095348
NM_020166.5(MCCC1):c.874-12dup rs755494348
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707

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