ClinVar Miner

List of variants in gene CCDC39 reported as likely pathogenic by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile) rs769223754 0.00005
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_181426.2(CCDC39):c.1848del (p.Arg615_Tyr616insTer) rs1576941580 0.00001
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) rs772219642 0.00001
NM_181426.2(CCDC39):c.1018_1019insG (p.His340fs)
NM_181426.2(CCDC39):c.10G>T (p.Glu4Ter)
NM_181426.2(CCDC39):c.1246del (p.Glu416fs)
NM_181426.2(CCDC39):c.1362+1G>A
NM_181426.2(CCDC39):c.1540_1544del (p.Phe514fs) rs2108420039
NM_181426.2(CCDC39):c.1570_1582del (p.Asp524fs)
NM_181426.2(CCDC39):c.1855C>T (p.Gln619Ter)
NM_181426.2(CCDC39):c.1865_1874+1del
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) rs1717695462
NM_181426.2(CCDC39):c.2061dup (p.Ala688fs) rs2108406611
NM_181426.2(CCDC39):c.2158+1G>A
NM_181426.2(CCDC39):c.496C>T (p.Gln166Ter)
NM_181426.2(CCDC39):c.610_613del rs1415346246
NM_181426.2(CCDC39):c.74del (p.Lys25fs) rs759007326
NM_181426.2(CCDC39):c.799A>T (p.Lys267Ter)
NM_181426.2(CCDC39):c.983_998del (p.Leu328fs)

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