ClinVar Miner

List of variants reported as benign for Primary ciliary dyskinesia 15 by Genome-Nilou Lab

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.207G>C (p.Val69=) rs2289527 0.98631
NM_017950.4(CCDC40):c.3030T>C (p.Asp1010=) rs12952612 0.71802
NM_017950.4(CCDC40):c.2450-89A>C rs11150839 0.65974
NM_017950.4(CCDC40):c.2450-53G>A rs11150840 0.65886
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=) rs35578653 0.52425
NM_017950.4(CCDC40):c.3417A>G (p.Pro1139=) rs2304854 0.49481
NM_017950.4(CCDC40):c.*15T>C rs2304853 0.35502
NM_017950.4(CCDC40):c.553-41A>G rs7207441 0.34994
NM_017950.4(CCDC40):c.676+13T>C rs7212525 0.34974
NM_017950.4(CCDC40):c.3180+45A>G rs59252872 0.32210
NM_017950.4(CCDC40):c.3022-48C>T rs72849388 0.18249
NM_017950.4(CCDC40):c.873C>T (p.Phe291=) rs2289531 0.09951

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