ClinVar Miner

List of variants in gene DNAAF2 reported as likely benign for Primary ciliary dyskinesia 10

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_018139.3(DNAAF2):c.707C>T (p.Pro236Leu) rs74050429 0.01349
NM_018139.3(DNAAF2):c.78C>T (p.Ala26=) rs7156297 0.01255
NM_018139.3(DNAAF2):c.1367C>T (p.Pro456Leu) rs137991407 0.00785
NM_018139.3(DNAAF2):c.728A>C (p.Glu243Ala) rs112044935 0.00596
NM_018139.3(DNAAF2):c.1406G>A (p.Cys469Tyr) rs150737854 0.00495
NM_018139.3(DNAAF2):c.1851C>T (p.Asn617=) rs147090213 0.00373
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00232
NM_018139.3(DNAAF2):c.1405T>A (p.Cys469Ser) rs202079418 0.00212
NM_018139.3(DNAAF2):c.2176A>G (p.Thr726Ala) rs80237479 0.00088
NM_018139.3(DNAAF2):c.423C>T (p.Val141=) rs373251065 0.00060
NM_018139.3(DNAAF2):c.20C>T (p.Ser7Phe) rs577796590 0.00016
NM_018139.3(DNAAF2):c.561C>T (p.Thr187=) rs529083217 0.00002

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