List of variants in gene combination CFTR, LOC111674472 reported as likely pathogenic 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)	rs1800111	0.00208
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.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val)	rs1800114	0.00005

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