List of variants in gene CFTR reported as likely benign 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: 50

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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.1365G>A (p.Ala455=)	rs79074685	0.00183
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.274-6T>C	rs371315549	0.00046
NM_000492.4(CFTR):c.3469-17T>C	rs199630678	0.00041
NM_000492.4(CFTR):c.1766+73T>G	rs397508299	0.00036
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.4092G>A (p.Ala1364=)	rs148878126	0.00012
NM_000492.4(CFTR):c.2620-97C>T	rs146376436	0.00011
NM_000492.4(CFTR):c.3718-24G>A	rs374013084	0.00009
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)	rs142920240	0.00007
NM_000492.4(CFTR):c.4224G>A (p.Leu1408=)	rs1800134	0.00007
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)	rs1801178	0.00006
NM_000492.4(CFTR):c.2769C>T (p.Ala923=)	rs1800108	0.00006
NM_000492.4(CFTR):c.3964-16T>C	rs199672530	0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=)	rs758147990	0.00006
NM_000492.4(CFTR):c.2475C>T (p.Asn825=)	rs746961486	0.00005
NM_000492.4(CFTR):c.1086T>C (p.Tyr362=)	rs397508155	0.00003
NM_000492.4(CFTR):c.4182T>C (p.Asp1394=)	rs763937782	0.00003
NM_000492.4(CFTR):c.2262G>C (p.Val754=)	rs1201012182	0.00002
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)	rs200921635	0.00002
NM_000492.4(CFTR):c.1209+7A>T	rs767301152	0.00001
NM_000492.4(CFTR):c.1393-13G>A	rs779389972	0.00001
NM_000492.4(CFTR):c.164+12T>C	rs121908790	0.00001
NM_000492.4(CFTR):c.1766+33C>A	rs1462418106	0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=)	rs1457520634	0.00001
NM_000492.4(CFTR):c.2766A>G (p.Val922=)	rs762906556	0.00001
NM_000492.4(CFTR):c.333G>A (p.Pro111=)	rs776878618	0.00001
NM_000492.4(CFTR):c.3368-20C>T	rs761144879	0.00001
NM_000492.4(CFTR):c.3441A>G (p.Val1147=)	rs375687401	0.00001
NM_000492.4(CFTR):c.357C>T (p.Ile119=)	rs1264742569	0.00001
NM_000492.4(CFTR):c.900C>A (p.Ala300=)	rs146652541	0.00001
NM_000492.4(CFTR):c.1116+32T>C	rs138990074
NM_000492.4(CFTR):c.1116+35T>C	rs1584789546
NM_000492.4(CFTR):c.1210-3C>T
NM_000492.4(CFTR):c.1210-6T>A	rs763339686
NM_000492.4(CFTR):c.1392+15C>G
NM_000492.4(CFTR):c.1467A>G (p.Ser489=)	rs1799419729
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)	rs1800097
NM_000492.4(CFTR):c.1767-9A>G	rs1223678085
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_000492.4(CFTR):c.3368-30G>C	rs1584824127
NM_000492.4(CFTR):c.3718-15A>C
NM_000492.4(CFTR):c.3874-27TTC[2]	rs397508623
NM_000492.4(CFTR):c.744-33GATT[5]	rs1805171
NM_000492.4(CFTR):c.744-34_744-31del	rs768226435
NM_000492.4(CFTR):c.960A>G (p.Leu320=)	rs56093012

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