List of variants in gene CFTR reported as benign for Cystic fibrosis

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: 113

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.1408G>A (p.Val470Met)	rs213950	0.56732
NM_000492.4(CFTR):c.1680-870T>A	rs213965	0.55332
NM_000492.4(CFTR):c.2562T>G (p.Thr854=)	rs1042077	0.44737
NM_000492.4(CFTR):c.1766+152T>A	rs4148711	0.43526
NM_000492.4(CFTR):c.4137-139G>A	rs4727855	0.25573
NM_000492.4(CFTR):c.1393-61A>G	rs34855237	0.25355
NM_000492.4(CFTR):c.3964-283T>C	rs10266116	0.23537
NM_000492.4(CFTR):c.3368-140A>C	rs213981	0.19089
NM_000492.4(CFTR):c.3874-200G>A	rs214164	0.18968
NM_000492.4(CFTR):c.3469-65C>A	rs213989	0.18576
NM_000492.4(CFTR):c.2909-92G>A	rs35050470	0.16197
NM_000492.4(CFTR):c.1210-13G>T	rs10229820	0.09791
NM_000492.4(CFTR):c.869+11C>T	rs1800503	0.07590
NM_000492.4(CFTR):c.3870A>G (p.Pro1290=)	rs1800130	0.07467
NM_000492.4(CFTR):c.2909-71G>C	rs34830471	0.03795
NM_000492.4(CFTR):c.743+40A>G	rs1800502	0.03675
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.2898G>A (p.Thr966=)	rs1800109	0.00907
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)	rs1800100	0.00625
NM_000492.4(CFTR):c.164+28A>G	rs34010645	0.00589
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)	rs34911792	0.00573
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)	rs1800098	0.00519
NM_000492.4(CFTR):c.1581A>G (p.Glu527=)	rs1800094	0.00491
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)	rs115545701	0.00350
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)	rs11971167	0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)	rs121909046	0.00335
NM_000492.4(CFTR):c.4242+13A>G	rs76179227	0.00295
NM_000492.4(CFTR):c.1210-13del	rs750294275	0.00222
NM_000492.4(CFTR):c.2620-15C>G	rs139379077	0.00212
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.1393-42G>A	rs34906874	0.00148
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.91C>T (p.Arg31Cys)	rs1800073	0.00134
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.3897A>G (p.Thr1299=)	rs1800131	0.00101
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)	rs74571530	0.00090
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)	rs35516286	0.00083
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)	rs121909034	0.00068
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)	rs143486492	0.00059
NM_000492.4(CFTR):c.3717+45G>A	rs145743767	0.00058
NM_000492.4(CFTR):c.274-6T>C	rs371315549	0.00046
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)	rs144476686	0.00043
NM_000492.4(CFTR):c.3469-17T>C	rs199630678	0.00041
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)	rs201386642	0.00040
NM_000492.4(CFTR):c.2620-6T>C	rs371315682	0.00038
NM_000492.4(CFTR):c.1516A>G (p.Ile506Val)	rs1800091	0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met)	rs1800103	0.00034
NM_000492.4(CFTR):c.1584+12T>C	rs193922502	0.00028
NM_000492.4(CFTR):c.374T>C (p.Ile125Thr)	rs141723617	0.00026
NM_000492.4(CFTR):c.3963+69A>G	rs540577876	0.00019
NM_000492.4(CFTR):c.2957T>C (p.Leu986Pro)	rs565971160	0.00010
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.1519A>G (p.Ile507Val)	rs1801178	0.00006
NM_000492.4(CFTR):c.3469-20T>C	rs373002889	0.00005
NM_000492.4(CFTR):c.3789T>C (p.Thr1263=)	rs200921635	0.00002
NM_000492.4(CFTR):c.3918C>G (p.Pro1306=)	rs1800132	0.00002
NM_000492.4(CFTR):c.164+12T>C	rs121908790	0.00001
NM_000492.4(CFTR):c.2835G>A (p.Ser945=)	rs193922513	0.00001
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)	rs397508607	0.00001
NM_000492.4(CFTR):c.53+3158A>G	rs1264197967	0.00001
NC_000007.13:g.117188661_117188689=
NM_000492.3(CFTR):c.1210-12T[9]	rs1805177
NM_000492.3(CFTR):c.1210-17_1210-12del	rs3832534
NM_000492.4(CFTR):c.*133dup	rs145697705
NM_000492.4(CFTR):c.1209+18dup
NM_000492.4(CFTR):c.1210-12=	rs1805177
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTT	rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTGTTT	rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTT	rs756031917
NM_000492.4(CFTR):c.1210-12_1210-11insGTTT	rs756031917
NM_000492.4(CFTR):c.1210-13_1210-10del	rs765376630
NM_000492.4(CFTR):c.1210-13_1210-11del	rs2115902247
NM_000492.4(CFTR):c.1210-15_1210-10del	rs2115902212
NM_000492.4(CFTR):c.1210-15_1210-13delinsT	rs1584793324
NM_000492.4(CFTR):c.1210-17_1210-10del	rs1799207704
NM_000492.4(CFTR):c.1210-17_1210-11del	rs2115902199
NM_000492.4(CFTR):c.1210-34=
NM_000492.4(CFTR):c.1210-34TG[10]	rs3832534
NM_000492.4(CFTR):c.1210-34TG[12]	rs3832534
NM_000492.4(CFTR):c.1210-34TG[13]	rs3832534
NM_000492.4(CFTR):c.1210-34TG[9]	rs3832534
NM_000492.4(CFTR):c.1210-6dup	rs1805177
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys)	rs4727853
NM_000492.4(CFTR):c.1392+11del
NM_000492.4(CFTR):c.1392+60dup	rs746240178
NM_000492.4(CFTR):c.1584+19del
NM_000492.4(CFTR):c.1584+53_1584+63dup	rs397508232
NM_000492.4(CFTR):c.1585-9218G>A
NM_000492.4(CFTR):c.1680-717A>G
NM_000492.4(CFTR):c.1767-12del
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln)	rs1800076
NM_000492.4(CFTR):c.2619+86_2619+87del	rs4148712
NM_000492.4(CFTR):c.273+46T>G	rs1227927169
NM_000492.4(CFTR):c.274-13dup
NM_000492.4(CFTR):c.3368-13del
NM_000492.4(CFTR):c.3465C>A (p.Ser1155Arg)
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu)	rs1800120
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val)	rs397508617
NM_000492.4(CFTR):c.3874-105T>G	rs1584842682
NM_000492.4(CFTR):c.3874-8del	rs1562926012
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)	rs113857788
NM_000492.4(CFTR):c.4137-5dup	rs1171674692
NM_000492.4(CFTR):c.744-33=
NM_000492.4(CFTR):c.744-33GATT[5]	rs1805171
NM_000492.4(CFTR):c.744-33GATT[6]	rs1805171
NM_000492.4(CFTR):c.744-33GATT[8]	rs1805171
NM_000492.4(CFTR):c.870-5del	rs759762840
NM_000492.4(CFTR):c.870-7_870-5del	rs759762840

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