List of variants in gene combination CFTR, LOC111674472 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 13

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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.3041A>G (p.Tyr1014Cys)	rs149279509	0.00019
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His)	rs376968326	0.00011
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr)	rs184724618	0.00008
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln)	rs769448889	0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu)	rs397508542	0.00004
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His)	rs193922516	0.00003
NM_000492.4(CFTR):c.3083T>G (p.Met1028Arg)	rs397508494	0.00001
NM_000492.4(CFTR):c.3139+8A>G	rs193922517	0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile)	rs140883683	0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)	rs186045772	0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys)	rs150020260	0.00001
NM_000492.4(CFTR):c.3131A>G (p.Glu1044Gly)	rs397508501

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