ClinVar Miner

List of variants in gene CCDC40 reported as likely pathogenic for Primary ciliary dyskinesia

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Gene type:
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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.248del (p.Ala83fs) rs397515393 0.00029
NM_017950.4(CCDC40):c.1093G>T (p.Glu365Ter) rs1434356376 0.00001
NM_017950.4(CCDC40):c.2832+4A>T rs756602466 0.00001
NC_000017.10:g.(?_78021971)_(78024070_?)del
NM_017950.4(CCDC40):c.1159+3A>T rs1185054167
NM_017950.4(CCDC40):c.1160-2A>C
NM_017950.4(CCDC40):c.2235+1G>T rs1568709952
NM_017950.4(CCDC40):c.2450-1G>A rs774081599
NM_017950.4(CCDC40):c.2660dup (p.Asn887fs) rs1567811487
NM_017950.4(CCDC40):c.2711+1G>A
NM_017950.4(CCDC40):c.3157del (p.Arg1053fs) rs1567818236
NM_017950.4(CCDC40):c.3181-2A>G rs762664261
NM_017950.4(CCDC40):c.3358C>T (p.Gln1120Ter) rs2143789412
NM_017950.4(CCDC40):c.677-1G>T
NM_017950.4(CCDC40):c.677-2A>G
NM_017950.4(CCDC40):c.855+1G>A rs1346603171
NM_017950.4(CCDC40):c.93+2T>C rs2037179047
NM_017950.4(CCDC40):c.940-1G>C rs2037540861

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