List of variants in gene CFTR reported as likely pathogenic for Bronchiectasis with or without elevated sweat chloride 1; Cystic fibrosis; Hereditary pancreatitis; Congenital bilateral aplasia of vas deferens from CFTR mutation

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)	rs139468767	0.00016
NM_000492.4(CFTR):c.1721C>A (p.Pro574His)	rs121908758	0.00001
NM_000492.4(CFTR):c.293A>G (p.Gln98Arg)	rs397508464	0.00001
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)	rs121908805
NM_000492.4(CFTR):c.1766+2T>A	rs1554389062
NM_000492.4(CFTR):c.3717+5G>A	rs193922520

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