ClinVar Miner

List of variants reported as likely benign for Primary ciliary dyskinesia 15

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_017950.4(CCDC40):c.2255T>C (p.Leu752Pro) rs117203086 0.01796
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.631G>A (p.Asp211Asn) rs150615436 0.00391
NM_017950.4(CCDC40):c.2336G>A (p.Arg779His) rs183809462 0.00368
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.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.*633C>G rs117359231 0.00066
NM_017950.4(CCDC40):c.2227G>A (p.Glu743Lys) rs201166295 0.00016
NM_017950.4(CCDC40):c.3114G>A (p.Ser1038=) rs372856318 0.00010
NM_017950.4(CCDC40):c.1372G>A (p.Ala458Thr) rs372976809 0.00006
NM_017950.4(CCDC40):c.3354C>T (p.Tyr1118=) rs374909386 0.00006
NM_000152.5(GAA):c.-75C>G rs80020206
NM_017950.4(CCDC40):c.1531G>A (p.Glu511Lys) rs59978698
NM_017950.4(CCDC40):c.2832+332_2832+395del rs1567813101
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936

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