List of variants in gene CCDC40 reported as likely pathogenic for Primary ciliary dyskinesia 15

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_017950.4(CCDC40):c.2832+360C>T	rs1567813319	0.00002
NM_017950.4(CCDC40):c.3175C>T (p.Arg1059Ter)	rs1312712049	0.00001
NM_017950.4(CCDC40):c.961C>T (p.Arg321Ter)	rs754867753	0.00001
NM_017950.4(CCDC40):c.2026C>T (p.Gln676Ter)
NM_017950.4(CCDC40):c.2257dup (p.Glu753fs)	rs2143748349
NM_017950.4(CCDC40):c.2476C>T (p.Gln826Ter)
NM_017950.4(CCDC40):c.2699del (p.Leu900fs)
NM_017950.4(CCDC40):c.2712-1G>T	rs370706991
NM_017950.4(CCDC40):c.2753_2754del (p.Lys918fs)
NM_017950.4(CCDC40):c.2832+297G>T	rs1187849857
NM_017950.4(CCDC40):c.2832+395dup	rs1216169899
NM_017950.4(CCDC40):c.298del (p.Thr100fs)	rs2037232562
NM_017950.4(CCDC40):c.3058G>T (p.Glu1020Ter)
NM_017950.4(CCDC40):c.3092_3093dup (p.Glu1032Ter)	rs2143781646
NM_017950.4(CCDC40):c.424C>T (p.Gln142Ter)	rs1568667609
NM_017950.4(CCDC40):c.833dup (p.Val279fs)

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