ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia 15 by Fulgent Genetics, Fulgent Genetics

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.1562+2018C>T rs562415439 0.00092
NM_017950.4(CCDC40):c.552G>A (p.Leu184=) rs141588728 0.00044
NM_017950.4(CCDC40):c.1228G>A (p.Asp410Asn) rs370948871 0.00024
NM_017950.4(CCDC40):c.1414C>T (p.Arg472Trp) rs187993089 0.00021
NM_017950.4(CCDC40):c.3176G>A (p.Arg1059Gln) rs200902434 0.00019
NM_017950.4(CCDC40):c.598G>A (p.Val200Ile) rs200292678 0.00018
NM_017950.4(CCDC40):c.2584C>T (p.Arg862Trp) rs201858385 0.00012
NM_017950.4(CCDC40):c.2996G>A (p.Arg999His) rs201293301 0.00010
NM_017950.4(CCDC40):c.2999G>A (p.Arg1000Gln) rs369512832 0.00008
NM_017950.4(CCDC40):c.662T>C (p.Val221Ala) rs760951742 0.00004
NM_017950.4(CCDC40):c.962G>A (p.Arg321Gln) rs114740534 0.00002
NM_017950.4(CCDC40):c.1721C>A (p.Thr574Asn) rs202093340 0.00001
NM_017950.4(CCDC40):c.1807G>A (p.Glu603Lys) rs948532763 0.00001
NM_017950.4(CCDC40):c.3013G>A (p.Val1005Ile) rs775788498 0.00001
NM_017950.4(CCDC40):c.1530C>G (p.Asp510Glu) rs368929374
NM_017950.4(CCDC40):c.3263G>A (p.Arg1088His) rs200145777
NM_017950.4(CCDC40):c.676+2_676+3dup rs756160039

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