ClinVar Miner

List of variants reported as likely pathogenic for Primary ciliary dyskinesia 7 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.3133C>T (p.Arg1045Ter) rs377691013 0.00001
NM_001277115.2(DNAH11):c.12934-1G>T rs1554293484
NM_001277115.2(DNAH11):c.1710+1G>C rs1784326790
NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs) rs749926976

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