ClinVar Miner

List of variants in gene CFTR reported as pathogenic by Invitae

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Total variants: 44
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HGVS dbSNP
NC_000007.13:g.(?_117144294)_(117144445_?)del
NC_000007.13:g.(?_117304732)_(117305628_?)del
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1209+1G>A rs397508176
NM_000492.3(CFTR):c.1324A>T (p.Lys442Ter)
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1393-2A>G rs397508201
NM_000492.3(CFTR):c.1400T>C (p.Leu467Pro) rs139573311
NM_000492.3(CFTR):c.148T>C (p.Ser50Pro) rs397508217
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1543_1555del (p.Tyr515fs)
NM_000492.3(CFTR):c.1545_1546delTA rs121908776
NM_000492.3(CFTR):c.1680-886A>G rs397508266
NM_000492.3(CFTR):c.1766+5G>T rs121908796
NM_000492.3(CFTR):c.1792_1798del (p.Lys598fs) rs397508303
NM_000492.3(CFTR):c.1973_1985delinsAGAAA (p.Arg658fs) rs121908780
NM_000492.3(CFTR):c.200C>T (p.Pro67Leu) rs368505753
NM_000492.3(CFTR):c.2012del (p.Ser670_Leu671insTer) rs121908812
NM_000492.3(CFTR):c.2052dupA (p.Gln685Thrfs) rs121908746
NM_000492.3(CFTR):c.2083dup (p.Glu695fs) rs397508339
NM_000492.3(CFTR):c.2463_2464del (p.Ser821fs) rs797045156
NM_000492.3(CFTR):c.2490+1G>A rs141158996
NM_000492.3(CFTR):c.2620-2A>G rs1554390859
NM_000492.3(CFTR):c.2757C>G (p.Tyr919Ter)
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.3368-2A>G rs755416052
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.3(CFTR):c.3773dupT (p.Leu1258Phefs) rs121908789
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3883_3886delATTT rs387906373
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.4028del (p.Gly1343fs) rs397508661
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4058del (p.Gln1352_Leu1353insTer) rs1562928927
NM_000492.3(CFTR):c.483_484insCC (p.Lys162fs)
NM_000492.3(CFTR):c.489+1G>T rs78756941
NM_000492.3(CFTR):c.489+3A>G rs377729736
NM_000492.3(CFTR):c.579+3A>G rs397508761
NM_000492.3(CFTR):c.739_742dup (p.Arg248fs) rs1057517342
NM_000492.3(CFTR):c.744-?_1584+?dup
Single allele

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