ClinVar Miner

List of variants in gene CCDC40 studied for Ciliary dyskinesia, primary, 15

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Total variants: 15
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HGVS dbSNP
NM_017950.3(CCDC40):c.1159+12C>T rs2289533
NM_017950.3(CCDC40):c.1312A>T (p.Lys438Ter)
NM_017950.3(CCDC40):c.1315C>T (p.Gln439Ter) rs387907091
NM_017950.3(CCDC40):c.1345C>T (p.Arg449Ter) rs387907093
NM_017950.3(CCDC40):c.1890T>G (p.Ala630=) rs35578653
NM_017950.3(CCDC40):c.1951C>T (p.Gln651Ter) rs387907092
NM_017950.3(CCDC40):c.207G>C (p.Val69=) rs2289527
NM_017950.3(CCDC40):c.248delC (p.Ala83Valfs) rs397515393
NM_017950.3(CCDC40):c.2712-1G>T rs370706991
NM_017950.3(CCDC40):c.2824_2825insTGT (p.Arg942delinsMetTrp) rs587778819
NM_017950.3(CCDC40):c.662T>C (p.Val221Ala) rs760951742
NM_017950.3(CCDC40):c.676+13T>C rs7212525
NM_017950.3(CCDC40):c.677-4C>G rs2289530
NM_017950.3(CCDC40):c.961C>T (p.Arg321Ter) rs754867753
NM_017950.4(CCDC40):c.3284dup (p.Glu1096Glyfs)

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