List of variants in gene CFTR reported as pathogenic by Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)	rs75541969	0.00033
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)	rs121909011	0.00009
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)	rs75961395	0.00006
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)	rs77932196	0.00003
NM_000492.4(CFTR):c.274-1G>A	rs121908792	0.00002
NM_000492.4(CFTR):c.273+1G>A	rs121908791	0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.4(CFTR):c.1327_1330dup (p.Ile444fs)	rs397508189
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)	rs121908745
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)	rs121908746
NM_000492.4(CFTR):c.350G>A (p.Arg117His)	rs78655421

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