ClinVar Miner

List of variants in gene combination CFTR, LOC113664106 studied for Cystic fibrosis

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg) rs397508272 0.00006
NM_000492.4(CFTR):c.180G>C (p.Glu60Asp) rs569426839 0.00003
NM_000492.4(CFTR):c.165-3C>T rs200337193 0.00002
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter) rs77284892 0.00002
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys) rs397508256 0.00001
NM_000492.4(CFTR):c.192G>A (p.Lys64=) rs1325969557 0.00001
NC_000007.14:g.(?_117504243)_(117509152_?)del
NC_000007.14:g.(?_117504253)_(117509142_?)del
NM_000492.4(CFTR):c.165-12A>C
NM_000492.4(CFTR):c.165-12dup rs2116641261
NM_000492.4(CFTR):c.165-17T>C
NM_000492.4(CFTR):c.165-1G>A rs397508249
NM_000492.4(CFTR):c.165-2A>C rs397508250
NM_000492.4(CFTR):c.165-2A>G rs397508250
NM_000492.4(CFTR):c.165-2del rs1798467599
NM_000492.4(CFTR):c.165-4G>A rs2116641277
NM_000492.4(CFTR):c.165-4G>T
NM_000492.4(CFTR):c.165-50A>G rs369949496
NM_000492.4(CFTR):c.165-7T>G rs2116641270
NM_000492.4(CFTR):c.165-9C>A
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter) rs397508256
NM_000492.4(CFTR):c.167A>G (p.Glu56Gly) rs1554376387
NM_000492.4(CFTR):c.168A>G (p.Glu56=)
NM_000492.4(CFTR):c.168del (p.Glu56fs) rs397508269
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly) rs397508272
NM_000492.4(CFTR):c.170G>A (p.Trp57Ter) rs397508279
NM_000492.4(CFTR):c.171G>A (p.Trp57Ter) rs121909025
NM_000492.4(CFTR):c.172G>A (p.Asp58Asn) rs397508285
NM_000492.4(CFTR):c.173A>G (p.Asp58Gly) rs397508291
NM_000492.4(CFTR):c.173A>T (p.Asp58Val)
NM_000492.4(CFTR):c.174_177del (p.Asp58fs) rs397508295
NM_000492.4(CFTR):c.175dup (p.Arg59fs) rs397508294
NM_000492.4(CFTR):c.177A>G (p.Arg59=) rs893977457
NM_000492.4(CFTR):c.178G>A (p.Glu60Lys) rs77284892
NM_000492.4(CFTR):c.178G>C (p.Glu60Gln) rs77284892
NM_000492.4(CFTR):c.180G>A (p.Glu60=)
NM_000492.4(CFTR):c.181C>T (p.Leu61=)
NM_000492.4(CFTR):c.184G>A (p.Ala62Thr) rs1584776330
NM_000492.4(CFTR):c.184G>C (p.Ala62Pro) rs1584776330
NM_000492.4(CFTR):c.184G>T (p.Ala62Ser) rs1584776330
NM_000492.4(CFTR):c.189A>G (p.Ser63=)
NM_000492.4(CFTR):c.190A>G (p.Lys64Glu)

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