ClinVar Miner

List of variants in gene DNAAF1 reported as benign for Primary ciliary dyskinesia 13

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_178452.6(DNAAF1):c.1794C>G (p.Leu598=) rs2288019 0.51384
NM_178452.6(DNAAF1):c.1178A>G (p.Lys393Arg) rs17856705 0.37678
NM_178452.6(DNAAF1):c.1505C>T (p.Pro502Leu) rs11644164 0.30535
NM_178452.6(DNAAF1):c.1898T>C (p.Leu633Ser) rs2288020 0.28680
NM_178452.6(DNAAF1):c.2024G>C (p.Ser675Thr) rs2288023 0.28462
NM_178452.6(DNAAF1):c.1976T>C (p.Leu659Pro) rs2288022 0.28412
NM_178452.6(DNAAF1):c.1698+7G>T rs3826151 0.27950
NM_178452.6(DNAAF1):c.1975C>G (p.Leu659Val) rs2288021 0.16313
NM_178452.6(DNAAF1):c.1296G>C (p.Glu432Asp) rs9972733 0.07717
NM_178452.6(DNAAF1):c.1161C>G (p.Asp387Glu) rs36062234 0.05873
NM_178452.6(DNAAF1):c.1848G>A (p.Ala616=) rs76108116 0.04969
NM_178452.6(DNAAF1):c.988C>A (p.Arg330=) rs112191420 0.03681
NM_178452.6(DNAAF1):c.1077G>A (p.Ala359=) rs35504640 0.03388
NM_178452.6(DNAAF1):c.919C>G (p.Gln307Glu) rs111472069 0.03033
NM_178452.6(DNAAF1):c.1303G>A (p.Asp435Asn) rs149158199 0.02685
NM_178452.6(DNAAF1):c.352+17G>C rs142704524 0.01333
NM_178452.6(DNAAF1):c.780G>C (p.Gln260His) rs112051327 0.01197
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met) rs34777958 0.01064
NM_178452.6(DNAAF1):c.736G>A (p.Asp246Asn) rs151099638 0.00606
NM_178452.6(DNAAF1):c.2134C>G (p.Pro712Ala) rs4150187 0.00601
NM_178452.6(DNAAF1):c.2109A>G (p.Gly703=) rs35214636 0.00469
NM_178452.6(DNAAF1):c.1616T>C (p.Leu539Pro) rs141149453 0.00430
NM_178452.6(DNAAF1):c.-66T>C rs190497604 0.00342
NM_178452.6(DNAAF1):c.361C>T (p.Arg121Cys) rs368031148 0.00013

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