ClinVar Miner

List of variants reported as benign by CFTR-France

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
Download table as spreadsheet
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.4389G>A (p.Gln1463=) rs1800136 0.23407
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.3140-92T>C rs4148717 0.12640
NG_016465.4:g.18346T>G rs4148682 0.10044
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.-8G>C rs1800501 0.04368
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.3139+42A>T rs28517401 0.03591
NM_000492.4(CFTR):c.1584G>A (p.Glu528=) rs1800095 0.01670
NM_000492.4(CFTR):c.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.4272C>T (p.Tyr1424=) rs1800135 0.00660
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_000492.4(CFTR):c.3367+37G>A rs137854873 0.00226
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000492.4(CFTR):c.3139+18C>T rs147945812 0.00126
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.443T>C (p.Ile148Thr) rs35516286 0.00083
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000492.4(CFTR):c.3963+69A>G rs540577876 0.00019
NM_000492.4(CFTR):c.53+3158A>G rs1264197967 0.00001
NM_000492.3(CFTR):c.-85C>G rs530414231
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.4(CFTR):c.*133dup rs145697705
NM_000492.4(CFTR):c.1210-12= rs1805177
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.1392+60dup rs746240178
NM_000492.4(CFTR):c.1585-9218G>A
NM_000492.4(CFTR):c.1680-717A>G
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.2989-81del rs4148715
NM_000492.4(CFTR):c.3874-105T>G rs1584842682
NM_000492.4(CFTR):c.744-33=
NM_000492.4(CFTR):c.744-33GATT[6] rs1805171
NM_000492.4(CFTR):c.744-33GATT[8] rs1805171

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.