ClinVar Miner

List of variants in gene MCCC1 reported as benign by Invitae

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.396C>T (p.Leu132=) rs7622479 0.89165
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_020166.5(MCCC1):c.1614G>A (p.Ser538=) rs34749281 0.01204
NM_020166.5(MCCC1):c.1499G>A (p.Arg500Gln) rs78726268 0.00817
NM_020166.5(MCCC1):c.2149G>A (p.Glu717Lys) rs35706839 0.00480
NM_020166.5(MCCC1):c.726T>C (p.Asp242=) rs36206712 0.00445
NM_020166.5(MCCC1):c.639+13A>G rs140342772 0.00132
NM_020166.5(MCCC1):c.945T>C (p.Tyr315=) rs150862707 0.00048
NM_020166.5(MCCC1):c.686A>G (p.Glu229Gly) rs142629318 0.00008
NM_020166.5(MCCC1):c.1083+15dup rs377092260
NM_020166.5(MCCC1):c.1268-19C>T
NM_020166.5(MCCC1):c.1378-17del
NM_020166.5(MCCC1):c.1682-17dup
NM_020166.5(MCCC1):c.1732-13del rs770181345
NM_020166.5(MCCC1):c.1732-4dup
NM_020166.5(MCCC1):c.874-6del rs755494348
NM_020166.5(MCCC1):c.874-6dup rs755494348
NM_020166.5(MCCC1):c.956-10dup rs747546545

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