List of variants in gene combination CFTR, LOC111674472 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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00037
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg)	rs200321110	0.00035
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00030
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	rs1800114	0.00005
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)	rs139304906	0.00001
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)	rs397508531	0.00001
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu)	rs193922516
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu)	rs1554392023
NM_000492.4(CFTR):c.3223G>T (p.Glu1075Ter)

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