ClinVar Miner

List of variants in gene CCDC39 reported by Fulgent Genetics, Fulgent Genetics

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.2159-16A>C rs147028259 0.00860
NM_181426.2(CCDC39):c.2057A>G (p.Asn686Ser) rs201586263 0.00032
NM_181426.2(CCDC39):c.1885C>T (p.Arg629Cys) rs199526690 0.00016
NM_181426.2(CCDC39):c.357+1G>C rs397515392 0.00007
NM_181426.2(CCDC39):c.137G>A (p.Arg46His) rs376716008 0.00004
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr) rs758493174 0.00004
NM_181426.2(CCDC39):c.531A>G (p.Gln177=) rs779897284 0.00001
NM_181426.2(CCDC39):c.1045del (p.Thr349fs) rs747980515
NM_181426.2(CCDC39):c.1359C>A (p.Ser453Arg) rs6769457
NM_181426.2(CCDC39):c.1363-13del rs374074877
NM_181426.2(CCDC39):c.1964_1968del (p.Glu655fs) rs1717695462
NM_181426.2(CCDC39):c.2040_2043del (p.Cys680fs) rs1174553107
NM_181426.2(CCDC39):c.2226C>A (p.Tyr742Ter) rs772219642
NM_181426.2(CCDC39):c.610_613del rs1415346246
NM_181426.2(CCDC39):c.64GAG[1] (p.Glu23del) rs771715698
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs) rs773801386

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