List of variants in gene CFTR reported by GenomeConnect, ClinGen

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)	rs1800095	0.01670
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)	rs77010898	0.00019
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)	rs80034486	0.00016
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)	rs77101217	0.00001
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)	rs113993960
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)	rs746418935
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)	rs1800120
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)	rs77834169

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