ClinVar Miner

List of variants in gene CFTR reported as likely benign

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Gene type:
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Total variants: 109
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HGVS dbSNP
NM_000492.3(CFTR):c.*1043A>C rs10234329
NM_000492.3(CFTR):c.*1251C>T rs1042180
NM_000492.3(CFTR):c.*1294G>A rs55831234
NM_000492.3(CFTR):c.*133del rs145697705
NM_000492.3(CFTR):c.*325A>G rs17140308
NM_000492.3(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.3(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1117-31A>G rs1554381590
NM_000492.3(CFTR):c.1209+18A>C rs193922499
NM_000492.3(CFTR):c.1210-11T>G rs73715573
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1210-13G>T rs10229820
NM_000492.3(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.3(CFTR):c.1357_1359TTG[1] (p.Leu454del) rs397508194
NM_000492.3(CFTR):c.1365G>A (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.3(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.3(CFTR):c.1408G>A (p.Val470Met) rs213950
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.1523T>G (p.Phe508Cys) rs74571530
NM_000492.3(CFTR):c.1545T>C (p.Tyr515=) rs747504631
NM_000492.3(CFTR):c.1581A>G (p.Glu527=) rs1800094
NM_000492.3(CFTR):c.1584+11_1584+13dup rs1554384454
NM_000492.3(CFTR):c.1584+12T>C rs193922502
NM_000492.3(CFTR):c.1584+77A>G rs143382119
NM_000492.3(CFTR):c.1584G>A (p.Glu528=) rs1800095
NM_000492.3(CFTR):c.164+28A>G rs34010645
NM_000492.3(CFTR):c.1680-26T>C rs397508265
NM_000492.3(CFTR):c.1680-871A>G rs572658447
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1734A>G (p.Leu578=) rs201025424
NM_000492.3(CFTR):c.1758A>T (p.Ile586=) rs1462572352
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.3(CFTR):c.2245C>T (p.Leu749=) rs151235408
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=) rs1201012182
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs144055758
NM_000492.3(CFTR):c.2424T>C (p.Tyr808=) rs143954792
NM_000492.3(CFTR):c.2475C>T (p.Asn825=) rs746961486
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.2604A>G (p.Val868=) rs1800105
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.2620-26_2620-25insG rs776600589
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.274-6T>C rs371315549
NM_000492.3(CFTR):c.2820T>G (p.Thr940=) rs60887846
NM_000492.3(CFTR):c.2832G>A (p.Val944=) rs193922512
NM_000492.3(CFTR):c.2835G>A (p.Ser945=) rs193922513
NM_000492.3(CFTR):c.2898G>A (p.Thr966=) rs1800109
NM_000492.3(CFTR):c.3368-10G>A rs1060504847
NM_000492.3(CFTR):c.3368-19G>A rs374104839
NM_000492.3(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3558A>G (p.Gln1186=) rs1800121
NM_000492.3(CFTR):c.3564G>A (p.Ser1188=) rs146804928
NM_000492.3(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.3759G>A (p.Leu1253=) rs117400534
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607
NM_000492.3(CFTR):c.3789T>C (p.Thr1263=) rs200921635
NM_000492.3(CFTR):c.3807C>T (p.Ile1269=) rs1800129
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3870A>G (p.Pro1290=) rs1800130
NM_000492.3(CFTR):c.3874-26dup rs1554396371
NM_000492.3(CFTR):c.3897A>G (p.Thr1299=) rs1800131
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.406C>T (p.Leu136=) rs1351515691
NM_000492.3(CFTR):c.4092G>A (p.Ala1364=) rs148878126
NM_000492.3(CFTR):c.4095G>A (p.Lys1365=) rs759891255
NM_000492.3(CFTR):c.4182T>C (p.Asp1394=) rs763937782
NM_000492.3(CFTR):c.4242+13A>G rs76179227
NM_000492.3(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.3(CFTR):c.489+10C>G rs1447914513
NM_000492.3(CFTR):c.489+25A>G rs531830892
NM_000492.3(CFTR):c.489+87_489+88dup rs1554379931
NM_000492.3(CFTR):c.489+8T>C rs727504712
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.489+91A>G rs56094102
NM_000492.3(CFTR):c.490-26delT rs781120531
NM_000492.3(CFTR):c.589T>C (p.Leu197=) rs755619078
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.663G>A (p.Ala221=) rs758147990
NM_000492.3(CFTR):c.66A>G (p.Pro22=) rs748899228
NM_000492.3(CFTR):c.738G>A (p.Lys246=) rs35033453
NM_000492.3(CFTR):c.744-33GATT[5] rs1805171
NM_000492.3(CFTR):c.744-34_744-31delAGAT rs768226435
NM_000492.3(CFTR):c.744-6T>G rs878854022
NM_000492.3(CFTR):c.744-9_744-6dup rs1805171
NM_000492.3(CFTR):c.813T>G (p.Ser271=) rs1060504846
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.869+11C>T rs1800503
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
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.927C>G (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.927C>T (p.Ala309=) rs1800084
NM_000492.3(CFTR):c.954G>A (p.Val318=) rs766189605

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