ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP
NM_000492.3(CFTR):c.*2G>A rs150914702
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1039C>T (p.Arg347Cys) rs397508147
NM_000492.3(CFTR):c.1046C>T (p.Ala349Val) rs121909021
NM_000492.3(CFTR):c.1047G>A (p.Ala349=) rs200520623
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1066_1072delinsA (p.Trp356_Val358delinsIle) rs797044788
NM_000492.3(CFTR):c.109A>G (p.Ile37Val) rs759721412
NM_000492.3(CFTR):c.1116+6G>C rs762964768
NM_000492.3(CFTR):c.1149G>A (p.Leu383=) rs1562892844
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1164G>A (p.Thr388=) rs1800088
NM_000492.3(CFTR):c.1210-15G>T rs947648829
NM_000492.3(CFTR):c.1210-32T>G rs886044712
NM_000492.3(CFTR):c.1227T>C (p.Phe409=) rs778548877
NM_000492.3(CFTR):c.1231A>G (p.Lys411Glu) rs748155731
NM_000492.3(CFTR):c.125C>T (p.Ser42Phe) rs143456784
NM_000492.3(CFTR):c.1312A>G (p.Thr438Ala) rs201434579
NM_000492.3(CFTR):c.1331T>C (p.Ile444Thr) rs397508191
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
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.1430C>A (p.Pro477His) rs886044297
NM_000492.3(CFTR):c.1436A>C (p.Glu479Ala) rs886043543
NM_000492.3(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.3(CFTR):c.1450C>T (p.His484Tyr) rs397508210
NM_000492.3(CFTR):c.1454G>C (p.Ser485Thr) rs143980575
NM_000492.3(CFTR):c.1479G>C (p.Gln493His) rs1554384373
NM_000492.3(CFTR):c.1534T>A (p.Tyr512Asn) rs1562898472
NM_000492.3(CFTR):c.1552A>G (p.Arg518Gly) rs1562898497
NM_000492.3(CFTR):c.1558G>A (p.Val520Ile) rs77646904
NM_000492.3(CFTR):c.1582G>A (p.Glu528Lys) rs773018372
NM_000492.3(CFTR):c.1584G>T (p.Glu528Asp) rs1800095
NM_000492.3(CFTR):c.164+12T>C rs121908790
NM_000492.3(CFTR):c.1680-6T>G rs949851823
NM_000492.3(CFTR):c.1680-8C>A rs1562907146
NM_000492.3(CFTR):c.1718C>T (p.Ser573Phe) rs772223589
NM_000492.3(CFTR):c.1763A>G (p.Glu588Gly) rs397508297
NM_000492.3(CFTR):c.1766+73T>G rs397508299
NM_000492.3(CFTR):c.1920T>C (p.Phe640=) rs145877746
NM_000492.3(CFTR):c.202A>G (p.Lys68Glu) rs397508332
NM_000492.3(CFTR):c.2042A>T (p.Glu681Val) rs201295415
NM_000492.3(CFTR):c.2055A>G (p.Gln685=) rs1457520634
NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) rs145540754
NM_000492.3(CFTR):c.2145A>C (p.Gln715His) rs141235765
NM_000492.3(CFTR):c.2173G>A (p.Glu725Lys) rs199791061
NM_000492.3(CFTR):c.2191C>T (p.Pro731Ser) rs1562908065
NM_000492.3(CFTR):c.2193T>C (p.Pro731=) rs886043733
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.2251C>T (p.Arg751Cys) rs772661780
NM_000492.3(CFTR):c.226T>A (p.Cys76Ser) rs757959325
NM_000492.3(CFTR):c.2372_2377del (p.Thr791_Arg792del) rs1562908169
NM_000492.3(CFTR):c.2374C>G (p.Arg792Gly) rs145449046
NM_000492.3(CFTR):c.2392C>T (p.Pro798Ser) rs138069616
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2490+5G>T rs764466147
NM_000492.3(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642
NM_000492.3(CFTR):c.250T>C (p.Tyr84His) rs745756794
NM_000492.3(CFTR):c.2544A>T (p.Thr848=) rs751242146
NM_000492.3(CFTR):c.2559T>C (p.Ile853=) rs1800104
NM_000492.3(CFTR):c.2561_2562delinsTG (p.Thr854Met) rs1554389814
NM_000492.3(CFTR):c.2620-6T>C rs371315682
NM_000492.3(CFTR):c.2659A>C (p.Thr887Pro) rs770359007
NM_000492.3(CFTR):c.2665C>T (p.Leu889Phe) rs61738523
NM_000492.3(CFTR):c.2673C>G (p.Asp891Glu) rs776350132
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2736G>A (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2736G>C (p.Ser912=) rs200901072
NM_000492.3(CFTR):c.2756A>G (p.Tyr919Cys) rs397508430
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2758G>T (p.Val920Leu) rs373885282
NM_000492.3(CFTR):c.2769C>T (p.Ala923=) rs1800108
NM_000492.3(CFTR):c.2770G>A (p.Asp924Asn) rs201759207
NM_000492.3(CFTR):c.2772C>A (p.Asp924Glu) rs1562911610
NM_000492.3(CFTR):c.2797A>G (p.Arg933Gly) rs397508436
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2855T>C (p.Met952Thr) rs142773283
NM_000492.3(CFTR):c.2856G>A (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.2882T>C (p.Met961Thr) rs769377991
NM_000492.3(CFTR):c.2895C>A (p.Asn965Lys) rs779569793
NM_000492.3(CFTR):c.2908+4C>A rs372266030
NM_000492.3(CFTR):c.2909-4A>G rs397508457
NM_000492.3(CFTR):c.2981T>G (p.Phe994Cys) rs397508469
NM_000492.3(CFTR):c.316A>G (p.Ile106Val) rs1024092547
NM_000492.3(CFTR):c.332C>G (p.Pro111Arg) rs140502196
NM_000492.3(CFTR):c.332C>T (p.Pro111Leu) rs140502196
NM_000492.3(CFTR):c.3368-4A>G rs748811222
NM_000492.3(CFTR):c.3382A>G (p.Arg1128Gly) rs397508549
NM_000492.3(CFTR):c.3407C>T (p.Ala1136Val) rs1562916044
NM_000492.3(CFTR):c.3415A>G (p.Ile1139Val) rs397508556
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.3(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.3(CFTR):c.3503A>G (p.Asp1168Gly) rs150326506
NM_000492.3(CFTR):c.3517G>A (p.Gly1173Ser) rs368393738
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.3588A>T (p.Ser1196=) rs759202870
NM_000492.3(CFTR):c.360G>A (p.Ala120=) rs1800077
NM_000492.3(CFTR):c.3659C>T (p.Thr1220Ile) rs1800123
NM_000492.3(CFTR):c.3665G>A (p.Gly1222Asp) rs1562919449
NM_000492.3(CFTR):c.3710G>A (p.Gly1237Asp) rs751474685
NM_000492.3(CFTR):c.3718-24G>A rs374013084
NM_000492.3(CFTR):c.3747G>A (p.Gly1249=) rs794727373
NM_000492.3(CFTR):c.3772T>C (p.Leu1258=) rs202074317
NM_000492.3(CFTR):c.377G>T (p.Gly126Val) rs397508609
NM_000492.3(CFTR):c.3815T>A (p.Val1272Glu) rs752834717
NM_000492.3(CFTR):c.3836T>C (p.Leu1279Ser) rs1286786026
NM_000492.3(CFTR):c.3846G>C (p.Trp1282Cys) rs77010898
NM_000492.3(CFTR):c.3852A>G (p.Lys1284=) rs547248892
NM_000492.3(CFTR):c.3853G>A (p.Ala1285Thr) rs868174013
NM_000492.3(CFTR):c.3873+7A>T rs752993761
NM_000492.3(CFTR):c.3874-21_3874-15dup rs1584842749
NM_000492.3(CFTR):c.3874-4522A>G rs895394181
NM_000492.3(CFTR):c.3893G>T (p.Gly1298Val) rs193922522
NM_000492.3(CFTR):c.3895A>G (p.Thr1299Ala) rs750604866
NM_000492.3(CFTR):c.3933T>G (p.Ser1311Arg) rs962313398
NM_000492.3(CFTR):c.393T>C (p.Phe131=) rs1039221071
NM_000492.3(CFTR):c.3964-16T>C rs199672530
NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793
NM_000492.3(CFTR):c.4036C>T (p.Leu1346=) rs1562928908
NM_000492.3(CFTR):c.403A>G (p.Thr135Ala) rs771512600
NM_000492.3(CFTR):c.4045G>A (p.Gly1349Ser) rs201686600
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.40A>G (p.Lys14Glu) rs397508673
NM_000492.3(CFTR):c.4121C>G (p.Ala1374Gly) rs115147093
NM_000492.3(CFTR):c.4123C>A (p.His1375Asn) rs146947665
NM_000492.3(CFTR):c.4129G>C (p.Asp1377His) rs150683293
NM_000492.3(CFTR):c.4159A>G (p.Thr1387Ala) rs1455404428
NM_000492.3(CFTR):c.416A>C (p.His139Pro) rs76371115
NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) rs145900055
NM_000492.3(CFTR):c.4195C>G (p.Leu1399Val) rs1562929162
NM_000492.3(CFTR):c.4197C>G (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4197C>T (p.Leu1399=) rs79688066
NM_000492.3(CFTR):c.4241T>C (p.Leu1414Ser) rs397508703
NM_000492.3(CFTR):c.4436G>A (p.Arg1479Lys) rs1325117166
NM_000492.3(CFTR):c.451C>A (p.Gln151Lys) rs397508720
NM_000492.3(CFTR):c.489+87A>G rs969399514
NM_000492.3(CFTR):c.489+8T>G rs727504712
NM_000492.3(CFTR):c.561C>T (p.Asn187=) rs397508754
NM_000492.3(CFTR):c.581G>T (p.Gly194Val) rs397508763
NM_000492.3(CFTR):c.592G>A (p.Ala198Thr) rs193922529
NM_000492.3(CFTR):c.592G>C (p.Ala198Pro) rs193922529
NM_000492.3(CFTR):c.648G>T (p.Trp216Cys) rs397508776
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.688C>T (p.Leu230=) rs201410793
NM_000492.3(CFTR):c.710A>G (p.Gln237Arg) rs1554380493
NM_000492.3(CFTR):c.715G>A (p.Gly239Arg) rs397508788
NM_000492.3(CFTR):c.806T>C (p.Ile269Thr) rs201016820
NM_000492.3(CFTR):c.837A>T (p.Glu279Asp) rs773509355
NM_000492.3(CFTR):c.846A>T (p.Glu282Asp) rs142864834
NM_000492.3(CFTR):c.861C>G (p.Asn287Lys) rs112162204
NM_000492.3(CFTR):c.902A>G (p.Tyr301Cys) rs150691494
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.926C>G (p.Ala309Gly) rs397508818
NM_000492.3(CFTR):c.92G>T (p.Arg31Leu) rs149353983
NM_000492.3(CFTR):c.944T>C (p.Phe315Ser) rs760319837
NM_000492.3(CFTR):c.948T>G (p.Phe316Leu) rs78742051
NM_000492.3(CFTR):c.94C>A (p.Leu32Met) rs776797377
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.3(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000492.3(CFTR):c.974A>G (p.Tyr325Cys) rs373998255
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.1210-13_1210-10del rs765376630
NM_000492.4(CFTR):c.1270G>A (p.Gly424Ser) rs371107552
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp) rs774945680
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val) rs75647395
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val) rs1554395370
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn) rs35516286
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345
Single allele

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