ClinVar Miner

List of variants in gene CFTR reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 135
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HGVS dbSNP
NM_000492.3(CFTR):c.1000C>T (p.Arg334Trp) rs121909011
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1013C>T (p.Thr338Ile) rs77409459
NM_000492.3(CFTR):c.1040G>A (p.Arg347His) rs77932196
NM_000492.3(CFTR):c.1040G>C (p.Arg347Pro) rs77932196
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1052C>T (p.Thr351Ile) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1210-13_1210-12delGT rs3832534
NM_000492.3(CFTR):c.1210-15_1210-12delGTGT rs3832534
NM_000492.3(CFTR):c.1210-17_1210-12delGTGTGT rs3832534
NM_000492.3(CFTR):c.1235C>T (p.Ala412Val) rs1554382604
NM_000492.3(CFTR):c.1253A>G (p.Asn418Ser) rs397508185
NM_000492.3(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.3(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.3(CFTR):c.1393-1G>A rs397508200
NM_000492.3(CFTR):c.1437G>C (p.Glu479Asp) rs754152822
NM_000492.3(CFTR):c.1477C>T (p.Gln493Ter) rs77101217
NM_000492.3(CFTR):c.1516A>G (p.Ile506Val) rs1800091
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.1519_1521delATC (p.Ile507del) rs121908745
NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe) rs113993960
NM_000492.3(CFTR):c.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1582G>A (p.Glu528Lys) rs773018372
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.3(CFTR):c.1684G>C (p.Val562Leu) rs1800097
NM_000492.3(CFTR):c.1700A>C (p.Asp567Ala)
NM_000492.3(CFTR):c.1703delT (p.Leu568Cysfs) rs397508274
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1783A>G (p.Met595Val) rs750140050
NM_000492.3(CFTR):c.1913C>T (p.Pro638Leu)
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2055A>G (p.Gln685=)
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
NM_000492.3(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.3(CFTR):c.2262G>C (p.Val754=)
NM_000492.3(CFTR):c.2327C>T (p.Ser776Leu) rs397508365
NM_000492.3(CFTR):c.2354G>A (p.Arg785Gln)
NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) rs145449046
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2433G>T (p.Arg811Ser)
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.2552G>A (p.Arg851Gln) rs397508395
NM_000492.3(CFTR):c.2557A>G (p.Ile853Val) rs780187979
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2562T>G (p.Thr854=) rs1042077
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.262_263delTT (p.Leu88Ilefs) rs121908769
NM_000492.3(CFTR):c.2657+1_2657+2insA rs1554390866
NM_000492.3(CFTR):c.2657+5G>A rs80224560
NM_000492.3(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.3(CFTR):c.26C>T (p.Ala9Val)
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2930C>T (p.Ser977Phe) rs141033578
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.2988+1G>A rs75096551
NM_000492.3(CFTR):c.328G>T (p.Asp110Tyr) rs113993958
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.3454G>C (p.Asp1152His) rs75541969
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.346G>A (p.Glu116Lys) rs397508571
NM_000492.3(CFTR):c.3472C>T (p.Arg1158Ter) rs79850223
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.349C>T (p.Arg117Cys) rs77834169
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3528delC (p.Lys1177Serfs) rs78984783
NM_000492.3(CFTR):c.3530delA (p.Lys1177Serfs) rs397508579
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3573G>A (p.Met1191Ile)
NM_000492.3(CFTR):c.3628A>G (p.Met1210Val) rs151264397
NM_000492.3(CFTR):c.3650C>T (p.Ala1217Val) rs749662161
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3672T>A (p.Asn1224Lys) rs371475225
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.3744delA (p.Lys1250Argfs) rs121908784
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3789T>C (p.Thr1263=) rs200921635
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) rs752834717
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.3848G>A (p.Arg1283Lys) rs77902683
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.3909C>G (p.Asn1303Lys) rs80034486
NM_000492.3(CFTR):c.3945A>G (p.Ile1315Met) rs1554396417
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) rs148878126
NM_000492.3(CFTR):c.4182T>C (p.Asp1394=)
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.454A>T (p.Met152Leu) rs397508721
NM_000492.3(CFTR):c.464C>G (p.Ala155Gly) rs1554379882
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.743+40A>G rs1800502
NM_000492.3(CFTR):c.744-13_744-6delGATTGATT rs1805171
NM_000492.3(CFTR):c.744-34_744-31delAGAT rs768226435
NM_000492.3(CFTR):c.744-9_744-6delGATT rs1805171
NM_000492.3(CFTR):c.794T>G (p.Met265Arg) rs148519623
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.3(CFTR):c.900C>A (p.Ala300=) rs146652541
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.944T>C (p.Phe315Ser) rs760319837
NM_000492.3(CFTR):c.948delT (p.Phe316Leufs) rs121908744
NM_000492.3(CFTR):c.94C>A (p.Leu32Met) rs776797377
NM_000492.3(CFTR):c.960A>C (p.Leu320Phe)
NM_000492.3:c.51delC

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