List of variants in gene combination CFTR, LOC111674477 reported by Genome Diagnostics Laboratory, The Hospital for Sick Children

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.4389G>A (p.Gln1463=)	rs1800136	0.23407
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=)	rs1800135	0.00660
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)	rs4148725	0.00009
NM_000492.4(CFTR):c.4364C>G (p.Ser1455Ter)	rs121909043	0.00001

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