ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 15 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 24
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HGVS dbSNP gnomAD frequency
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.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.631G>A (p.Asp211Asn) rs150615436 0.00391
NM_017950.4(CCDC40):c.3424T>C (p.Ser1142Pro) rs148900528 0.00366
NM_017950.4(CCDC40):c.3349G>A (p.Glu1117Lys) rs145595957 0.00331
NM_017950.4(CCDC40):c.3408C>T (p.Leu1136=) rs186591691 0.00309
NM_017950.4(CCDC40):c.334A>G (p.Thr112Ala) rs201709592 0.00245
NM_017950.4(CCDC40):c.1562+2003C>A rs151038976 0.00224
NM_017950.4(CCDC40):c.856-18G>A rs189118723 0.00151
NM_017950.4(CCDC40):c.2958C>T (p.Leu986=) rs78945041 0.00076
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.940-7G>A rs727504972 0.00005
NM_017950.4(CCDC40):c.1481G>A (p.Arg494His) rs200084360 0.00001
NM_017950.4(CCDC40):c.1645G>A (p.Glu549Lys) rs1414723148 0.00001
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936

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