ClinVar Miner

List of variants in gene MCCC1 reported as pathogenic by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 15
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HGVS dbSNP
NM_020166.5(MCCC1):c.1074del (p.Trp358fs) rs398124350
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser) rs119103213
NM_020166.5(MCCC1):c.1263dup (p.Gln422fs) rs762463137
NM_020166.5(MCCC1):c.137-2A>G rs727504006
NM_020166.5(MCCC1):c.1526del (p.Cys509fs) rs727504002
NM_020166.5(MCCC1):c.1905del (p.Lys635fs) rs727504001
NM_020166.5(MCCC1):c.205A>T (p.Lys69Ter) rs147741073
NM_020166.5(MCCC1):c.2079del (p.Thr693_Val694insTer) rs119103217
NM_020166.5(MCCC1):c.640-1G>A rs727504005
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.640_641delGG rs886058209
NM_020166.5(MCCC1):c.841C>T (p.Arg281Ter) rs185741664
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212

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