ClinVar Miner

List of variants in gene MCCC1 reported as pathogenic by GeneDx

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Total variants: 11
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HGVS dbSNP
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.1363del (p.Leu455fs) rs796051986
NM_020166.5(MCCC1):c.137-2A>G rs727504006
NM_020166.5(MCCC1):c.1682-3A>G rs760180709
NM_020166.5(MCCC1):c.168C>G (p.Asn56Lys) rs1057520695
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122
NM_020166.5(MCCC1):c.2085del (p.Val697fs) rs772010858
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977

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