List of variants in gene CCDC39 reported as likely pathogenic for Primary ciliary dyskinesia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_181426.2(CCDC39):c.1167+1261A>G	rs577069249	0.00048
NM_181426.2(CCDC39):c.610-2A>G	rs756235547	0.00009
NM_181426.2(CCDC39):c.1874G>T (p.Ser625Ile)	rs769223754	0.00005
NM_181426.2(CCDC39):c.2T>C (p.Met1Thr)	rs758493174	0.00004
NM_181426.2(CCDC39):c.1356C>A (p.Tyr452Ter)	rs375839864	0.00001
NM_181426.2(CCDC39):c.1363-11A>G	rs1553804100	0.00001
NM_181426.2(CCDC39):c.1665+1G>A	rs753580394	0.00001
NM_181426.2(CCDC39):c.1999-2A>T	rs1399517463	0.00001
NC_000003.11:g.(?_180369931)_(180372761_?)dup
NM_181426.2(CCDC39):c.1034+1G>A	rs1280721587
NM_181426.2(CCDC39):c.1034+2T>A	rs1210953680
NM_181426.2(CCDC39):c.1045del (p.Thr349fs)	rs747980515
NM_181426.2(CCDC39):c.1168-2A>C	rs1468349011
NM_181426.2(CCDC39):c.1362+1G>A
NM_181426.2(CCDC39):c.1484_1485del (p.Lys495fs)	rs751239231
NM_181426.2(CCDC39):c.1666-9C>G	rs1717971093
NM_181426.2(CCDC39):c.1874+2T>C	rs1717963637
NM_181426.2(CCDC39):c.1875-1G>C	rs1300257600
NM_181426.2(CCDC39):c.1962_1998+30del
NM_181426.2(CCDC39):c.1999-1G>C	rs2473782922
NM_181426.2(CCDC39):c.350A>G (p.Asp117Gly)	rs1560092712
NM_181426.2(CCDC39):c.352_354del (p.Lys118del)	rs1245822059
NM_181426.2(CCDC39):c.436del (p.Trp146fs)	rs2108429507
NM_181426.2(CCDC39):c.516+1G>A	rs2473824830
NM_181426.2(CCDC39):c.830_831del (p.Thr277fs)	rs773801386
NM_181426.2(CCDC39):c.930+1G>A	rs1711543098

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