List of variants in gene CFTR reported by Molecular Genetics Laboratory, BC Children's and BC Women's Hospitals

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)	rs1800130	0.07467
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=)	rs1800131	0.00101
NM_000492.4(CFTR):c.2245C>T (p.Leu749=)	rs151235408	0.00056
NM_000492.4(CFTR):c.509G>A (p.Arg170His)	rs1800079	0.00045
NM_000492.4(CFTR):c.1231A>G (p.Lys411Glu)	rs748155731	0.00003
NM_000492.4(CFTR):c.1517T>C (p.Ile506Thr)	rs397508224	0.00001
NM_000492.4(CFTR):c.1845A>G (p.Lys615=)	rs1792032957	0.00001
NM_000492.4(CFTR):c.413T>C (p.Leu138Pro)	rs1800078	0.00001
NM_000492.4(CFTR):c.1364C>T (p.Ala455Val)	rs74551128
NM_000492.4(CFTR):c.1583A>C (p.Glu528Ala)
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)	rs397508725
NM_000492.4(CFTR):c.551T>G (p.Leu184Arg)	rs1798913255
NM_000492.4(CFTR):c.878T>C (p.Leu293Pro)	rs2116683530

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