ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 23 by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_018076.5(ODAD2):c.1272C>T (p.Ser424=) rs111982349 0.02074
NM_018076.5(ODAD2):c.717G>A (p.Pro239=) rs150780082 0.00675
NM_018076.5(ODAD2):c.1743+11G>A rs74127161 0.00653
NM_018076.5(ODAD2):c.612T>A (p.Asp204Glu) rs61729354 0.00602
NM_018076.5(ODAD2):c.2610+11A>G rs111710872 0.00343
NM_018076.5(ODAD2):c.2496-12G>T rs182886953 0.00195
NM_018076.5(ODAD2):c.682+3T>C rs763523325 0.00007
NM_018076.5(ODAD2):c.1592T>G (p.Ile531Ser) rs370164015
NM_018076.5(ODAD2):c.1801G>A (p.Glu601Lys)
NM_018076.5(ODAD2):c.2610+8C>G rs372647560

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