ClinVar Miner

List of variants in gene MCCC1 reported as pathogenic by Baylor Genetics

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met) rs376289130 0.00011
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val) rs201041864 0.00011
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961 0.00005
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002 0.00003
NM_020166.5(MCCC1):c.1930G>T (p.Glu644Ter) rs905321122 0.00003
NM_020166.5(MCCC1):c.137-2A>G rs727504006 0.00002
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217 0.00002
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664 0.00002
NM_020166.5(MCCC1):c.1225C>T (p.Arg409Ter) rs1484347924 0.00001
NM_020166.5(MCCC1):c.639+2T>A rs199914879 0.00001
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530 0.00001
NM_020166.5(MCCC1):c.980C>G (p.Ser327Ter) rs750484977 0.00001
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1193_1194del (p.Val398fs) rs796051985
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.1378-2A>G
NM_020166.5(MCCC1):c.1541dup (p.Leu515fs)
NM_020166.5(MCCC1):c.1679dup (p.Asn560fs) rs1394547323
NM_020166.5(MCCC1):c.1750C>T (p.Gln584Ter)
NM_020166.5(MCCC1):c.1882G>T (p.Glu628Ter)
NM_020166.5(MCCC1):c.2088dup (p.Val697fs) rs746267545
NM_020166.5(MCCC1):c.558del (p.Gln186fs) rs1212517901
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.673C>T (p.Gln225Ter) rs779412317
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707

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