ClinVar Miner

List of variants reported for Primary ciliary dyskinesia 20 by Fulgent Genetics, Fulgent Genetics

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001364171.2(ODAD1):c.266G>C (p.Arg89Pro) rs58966182 0.00277
NM_001364171.2(ODAD1):c.853G>A (p.Ala285Thr) rs147718607 0.00022
NM_001364171.2(ODAD1):c.991G>A (p.Glu331Lys) rs142193030 0.00017
NM_001364171.2(ODAD1):c.1198C>T (p.Arg400Cys) rs149354918 0.00011
NM_001364171.2(ODAD1):c.1822C>T (p.His608Tyr) rs201978305 0.00010
NM_001364171.2(ODAD1):c.1502+5G>A rs201133219 0.00007
NM_001364171.2(ODAD1):c.2004dup (p.Gly669fs) rs745526849 0.00001
NM_001364171.2(ODAD1):c.498_499insCGT (p.Phe166_Asp167insArg) rs779459076

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