ClinVar Miner

List of variants reported as benign for Primary ciliary dyskinesia 23 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_018076.5(ODAD2):c.2058T>C (p.Asn686=) rs7893462 0.51292
NM_018076.5(ODAD2):c.1238G>A (p.Arg413Gln) rs7920186 0.12038
NM_018076.5(ODAD2):c.1237C>G (p.Arg413Gly) rs57067036 0.09166
NM_018076.5(ODAD2):c.1028T>C (p.Ile343Thr) rs4405206 0.07261
NM_018076.5(ODAD2):c.1533+13G>C rs41283706 0.06153
NM_018076.5(ODAD2):c.2359C>T (p.Arg787Cys) rs35242712 0.02826
NM_018076.5(ODAD2):c.3121G>T (p.Ala1041Ser) rs3737184 0.02212
NM_018076.5(ODAD2):c.1143-10T>G rs201844076 0.01978
NM_018076.5(ODAD2):c.1272C>T (p.Ser424=) rs111982349 0.01920
NM_018076.5(ODAD2):c.2979C>T (p.Asp993=) rs74555138 0.01400
NM_018076.5(ODAD2):c.2805C>A (p.Asn935Lys) rs35181927 0.00796
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 0.00567
NM_018076.5(ODAD2):c.1017C>T (p.Leu339=) rs117723546 0.00371
NM_018076.5(ODAD2):c.2610+11A>G rs111710872 0.00343
NM_018076.5(ODAD2):c.2127C>T (p.Leu709=) rs111586634 0.00303
NM_018076.5(ODAD2):c.27G>A (p.Thr9=) rs139724964 0.00224
NM_018076.5(ODAD2):c.2496-12G>T rs182886953 0.00190
NM_018076.5(ODAD2):c.2982C>T (p.Ala994=) rs148295264 0.00176
NM_018076.5(ODAD2):c.883G>C (p.Val295Leu) rs143215183 0.00128
NM_018076.5(ODAD2):c.1534-19C>G rs375614529 0.00091
NM_018076.5(ODAD2):c.198A>C (p.Ser66=) rs143338979 0.00076
NM_018076.5(ODAD2):c.2334G>A (p.Gly778=) rs138219785 0.00046
NM_018076.5(ODAD2):c.2253-20C>T rs554294331 0.00015
NM_018076.5(ODAD2):c.423T>C (p.Tyr141=) rs759039864 0.00004
NM_018076.5(ODAD2):c.1248T>G (p.Ala416=) rs75389371 0.00001
NM_018076.5(ODAD2):c.1273G>T (p.Asp425Tyr) rs147175768
NM_018076.5(ODAD2):c.1534-10del rs549508936
NM_018076.5(ODAD2):c.1534-18dup rs549508936
NM_018076.5(ODAD2):c.1986+13G>A rs143096939
NM_018076.5(ODAD2):c.1997G>A (p.Arg666Gln) rs35472668

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