List of variants in gene CCDC40 reported as benign for Primary ciliary dyskinesia 15

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 32

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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.2450-89A>C	rs11150839	0.66312
NM_017950.4(CCDC40):c.2450-53G>A	rs11150840	0.66230
NM_017950.4(CCDC40):c.1890T>G (p.Ala630=)	rs35578653	0.51937
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	0.31698
NM_017950.4(CCDC40):c.677-4C>G	rs2289530	0.19337
NM_017950.4(CCDC40):c.1159+12C>T	rs2289533	0.19106
NM_017950.4(CCDC40):c.3022-48C>T	rs72849388	0.17717
NM_017950.4(CCDC40):c.2323G>A (p.Val775Met)	rs60684213	0.11874
NM_017950.4(CCDC40):c.873C>T (p.Phe291=)	rs2289531	0.10068
NM_017950.4(CCDC40):c.1889C>T (p.Ala630Val)	rs61749058	0.08699
NM_017950.4(CCDC40):c.507G>A (p.Ser169=)	rs2885349	0.05290
NM_017950.4(CCDC40):c.1338C>T (p.Leu446=)	rs61734950	0.04478
NM_017950.4(CCDC40):c.2868G>A (p.Lys956=)	rs1982243	0.02985
NM_017950.4(CCDC40):c.504G>A (p.Pro168=)	rs74000351	0.02597
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro)	rs117203086	0.01796
NM_017950.4(CCDC40):c.2604C>T (p.Phe868=)	rs61749027	0.01693
NM_017950.4(CCDC40):c.1131C>T (p.Cys377=)	rs74692882	0.01622
NM_017950.4(CCDC40):c.1466G>T (p.Ser489Ile)	rs61739354	0.01613
NM_017950.4(CCDC40):c.946G>A (p.Ala316Thr)	rs61998241	0.01575
NM_017950.4(CCDC40):c.1449C>T (p.Thr483=)	rs116824266	0.01438
NM_017950.4(CCDC40):c.2682G>A (p.Ala894=)	rs4889815	0.01013
NM_017950.4(CCDC40):c.2784C>T (p.Ile928=)	rs118143944	0.00955
NM_017950.4(CCDC40):c.1123A>C (p.Lys375Gln)	rs61734951	0.00868
NM_017950.4(CCDC40):c.2608C>T (p.Arg870Cys)	rs61749025	0.00718
NM_017950.4(CCDC40):c.1303G>A (p.Glu435Lys)	rs62000409	0.00619
NM_017950.4(CCDC40):c.1441-18C>G	rs181295177	0.00530
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=)	rs186591691	0.00309
NM_017950.4(CCDC40):c.1144G>A (p.Glu382Lys)	rs2289532	0.00071
NM_017950.4(CCDC40):c.2900G>T (p.Arg967Leu)	rs61686936

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