ClinVar Miner

List of variants in gene CCDC39 reported as likely pathogenic by Invitae

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_181426.2(CCDC39):c.1999-2A>T rs1399517463 0.00002
NM_181426.2(CCDC39):c.1363-11A>G rs1553804100 0.00001
NM_181426.2(CCDC39):c.1034+1G>A
NM_181426.2(CCDC39):c.1034+2T>A rs1210953680
NM_181426.2(CCDC39):c.1168-2A>C rs1468349011
NM_181426.2(CCDC39):c.1666-9C>G rs1717971093
NM_181426.2(CCDC39):c.1875-1G>C
NM_181426.2(CCDC39):c.1999-1G>C
NM_181426.2(CCDC39):c.352_354del (p.Lys118del) rs1245822059
NM_181426.2(CCDC39):c.516+1G>A
NM_181426.2(CCDC39):c.930+1G>A

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