ClinVar Miner

List of variants reported as likely benign for cystic fibrosis by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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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.2898G>A (p.Thr966=) rs1800109 0.00907
NM_000492.4(CFTR):c.1584+1179A>G rs191397416 0.00558
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
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.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492 0.00059
NM_000492.4(CFTR):c.274-6586A>G rs555473089 0.00052
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00046
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079 0.00045
NM_000492.4(CFTR):c.54-6168A>G rs753840683 0.00037
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_000492.4(CFTR):c.3874-540A>G rs565351573 0.00024
NM_000492.4(CFTR):c.-4G>C rs369326781 0.00016
NM_000492.4(CFTR):c.54-8086A>G rs756806855 0.00015
NM_000492.4(CFTR):c.2619+2973A>G rs569442197 0.00010
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089 0.00005
NM_000492.4(CFTR):c.1679+9C>G rs775440240 0.00004
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000492.4(CFTR):c.609C>T (p.Ile203=) rs1800081 0.00002
NM_000492.4(CFTR):c.1210-307GT[14] rs3034794
NM_000492.4(CFTR):c.1392+2787A>G
NM_000492.4(CFTR):c.1393-565G>T
NM_000492.4(CFTR):c.1584+1000del
NM_000492.4(CFTR):c.1584+4639G>T rs575943791
NM_000492.4(CFTR):c.1585-13846A>G
NM_000492.4(CFTR):c.1585-7957A>G rs145778105
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1730A>T (p.Tyr577Phe) rs397508286
NM_000492.4(CFTR):c.2562_2563delinsGA (p.Val855Ile) rs1584813846
NM_000492.4(CFTR):c.273+10019C>T
NM_000492.4(CFTR):c.274-7526T>A
NM_000492.4(CFTR):c.274-8558G>A rs1798697575
NM_000492.4(CFTR):c.274-8984C>T
NM_000492.4(CFTR):c.3174C>T (p.Ser1058=) rs1792387133
NM_000492.4(CFTR):c.3368-581G>A
NM_000492.4(CFTR):c.3468+180A>G
NM_000492.4(CFTR):c.3469-3146G>A
NM_000492.4(CFTR):c.3469-4904G>A
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.3718-5034G>A
NM_000492.4(CFTR):c.3718-7104A>T
NM_000492.4(CFTR):c.3718-917T>C
NM_000492.4(CFTR):c.3854C>T (p.Ala1285Val) rs397508617
NM_000492.4(CFTR):c.3873+4987A>T
NM_000492.4(CFTR):c.3964-3999TA[4]
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.4243-576A>G
NM_000492.4(CFTR):c.53+3348G>A
NM_000492.4(CFTR):c.743+554A>G
NM_000492.4(CFTR):c.870-178T>A

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