List of variants in gene CFTR reported as likely benign by Quest Diagnostics Nichols Institute San Juan Capistrano

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: 28

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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.*1043A>C	rs10234329	0.01452
NM_000492.4(CFTR):c.1680-871A>G	rs572658447	0.00636
NM_000492.4(CFTR):c.1585-9449C>A	rs35135985	0.00537
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)	rs1800094	0.00491
NM_000492.4(CFTR):c.1365G>A (p.Ala455=)	rs79074685	0.00183
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)	rs150157202	0.00171
NM_000492.4(CFTR):c.2820T>G (p.Thr940=)	rs60887846	0.00148
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)	rs151073129	0.00145
NM_000492.4(CFTR):c.4242+10T>C	rs138642693	0.00127
NM_000492.4(CFTR):c.2620-26A>G	rs201716473	0.00108
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00046
NM_000492.4(CFTR):c.1920T>C (p.Phe640=)	rs145877746	0.00036
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=)	rs1800121	0.00029
NM_000492.4(CFTR):c.360G>A (p.Ala120=)	rs1800077	0.00015
NM_000492.4(CFTR):c.2559T>C (p.Ile853=)	rs1800104	0.00014
NM_000492.4(CFTR):c.1584+77A>G	rs143382119	0.00008
NM_000492.4(CFTR):c.2475C>T (p.Asn825=)	rs746961486	0.00005
NM_000492.4(CFTR):c.3469-20T>C	rs373002889	0.00005
NM_000492.4(CFTR):c.2052A>G (p.Lys684=)	rs750642366	0.00004
NM_000492.4(CFTR):c.2832G>A (p.Val944=)	rs193922512	0.00004
NM_000492.4(CFTR):c.1050C>G (p.Val350=)	rs1038437842	0.00002
NM_000492.4(CFTR):c.3591C>T (p.His1197=)	rs1393226501	0.00001
NM_000492.4(CFTR):c.120C>T (p.Ile40=)	rs376538363
NM_000492.4(CFTR):c.1584+53_1584+63dup	rs397508232
NM_000492.4(CFTR):c.744-33GATT[8]	rs1805171

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