List of variants in gene combination CFTR, LOC111674472 reported as likely pathogenic by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)	rs78769542	0.00006
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)	rs397508533	0.00001
NM_000492.4(CFTR):c.2989-2A>T	rs193922515
NM_000492.4(CFTR):c.2993del (p.Leu998fs)	rs1057516415
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)	rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)	rs1792366769
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)	rs397508498
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)	rs1584821736
NM_000492.4(CFTR):c.3139+1del	rs780546355
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)	rs121909036
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)	rs397508531
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)	rs397508533
NM_000492.4(CFTR):c.3367+1G>A	rs1470125842

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