ClinVar Miner

List of variants reported as likely benign for Primary ciliary dyskinesia 16

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00193
NM_031427.4(DNAL1):c.492A>G (p.Glu164=) rs150636700 0.00017
NM_031427.4(DNAL1):c.6G>A (p.Ala2=) rs1265630707 0.00011
NM_031427.4(DNAL1):c.243C>T (p.Asn81=) rs886050685 0.00009
NM_031427.4(DNAL1):c.4-10T>G rs776047200 0.00005
NM_031427.4(DNAL1):c.132G>A (p.Leu44=) rs202161399 0.00003
NM_031427.4(DNAL1):c.153-20T>G rs767415680 0.00002
NM_031427.4(DNAL1):c.209-13C>G rs747302116 0.00002
NM_031427.4(DNAL1):c.4-4A>T rs576147534 0.00002
NM_031427.4(DNAL1):c.234A>G (p.Gly78=) rs746314619 0.00001
NM_031427.4(DNAL1):c.265-17A>T rs1308650887 0.00001
NM_031427.4(DNAL1):c.3+17C>T rs747011129 0.00001
NM_031427.4(DNAL1):c.3+8C>G rs1456527977 0.00001
NM_031427.4(DNAL1):c.348A>G (p.Lys116=) rs186927207 0.00001
NM_031427.4(DNAL1):c.349T>C (p.Leu117=) rs757631296 0.00001
NM_031427.4(DNAL1):c.498A>T (p.Ala166=) rs770681880 0.00001
NM_031427.4(DNAL1):c.129C>T (p.Ser43=) rs2140030998
NM_031427.4(DNAL1):c.152+14T>C rs1891277009
NM_031427.4(DNAL1):c.153-7T>C rs1239414588
NM_031427.4(DNAL1):c.209-12_209-8del rs776621962
NM_031427.4(DNAL1):c.209-18G>A
NM_031427.4(DNAL1):c.209-20A>G
NM_031427.4(DNAL1):c.253T>C (p.Leu85=)
NM_031427.4(DNAL1):c.264+13TTA[2] rs775440642
NM_031427.4(DNAL1):c.264+14_264+17del
NM_031427.4(DNAL1):c.265-12G>C rs2503010380
NM_031427.4(DNAL1):c.265-15T>A rs2503010332
NM_031427.4(DNAL1):c.265-9C>T
NM_031427.4(DNAL1):c.279C>T (p.Asp93=) rs1346829170
NM_031427.4(DNAL1):c.3+18C>T
NM_031427.4(DNAL1):c.3+9C>A rs572913041
NM_031427.4(DNAL1):c.321G>A (p.Lys107=) rs2503010562
NM_031427.4(DNAL1):c.330G>A (p.Gly110=) rs1324085980
NM_031427.4(DNAL1):c.391+15G>A
NM_031427.4(DNAL1):c.391+16C>T
NM_031427.4(DNAL1):c.392-13_392-11del
NM_031427.4(DNAL1):c.4-19C>T rs939651787
NM_031427.4(DNAL1):c.4-19_4-15del
NM_031427.4(DNAL1):c.42+13G>A rs2502964567
NM_031427.4(DNAL1):c.42+8C>T rs1891180396
NM_031427.4(DNAL1):c.43-9T>C rs1595204699
NM_031427.4(DNAL1):c.462G>A (p.Glu154=)
NM_031427.4(DNAL1):c.471T>A (p.Ser157=)
NM_031427.4(DNAL1):c.483C>T (p.Asn161=) rs1158299457
NM_031427.4(DNAL1):c.532+11C>G rs72721725

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