ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported by Invitae

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Total variants: 201
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3140-92T>C rs4148717 0.12640
NM_000492.4(CFTR):c.3139+42A>T rs28517401 0.03591
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.3139+18C>T rs147945812 0.00126
NM_000492.4(CFTR):c.3139+101C>G rs397508502 0.00077
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000492.4(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110 0.00035
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys) rs149279509 0.00019
NM_000492.4(CFTR):c.3274T>C (p.Tyr1092His) rs376968326 0.00011
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623 0.00011
NM_000492.4(CFTR):c.3151A>G (p.Ile1051Val) rs374403559 0.00009
NM_000492.4(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618 0.00008
NM_000492.4(CFTR):c.3140-26A>G rs76151804 0.00006
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216 0.00006
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542 0.00006
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 0.00006
NM_000492.4(CFTR):c.3200C>T (p.Ala1067Val) rs1800114 0.00005
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=) rs1800116 0.00005
NM_000492.4(CFTR):c.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 0.00004
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) rs142526976 0.00004
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) rs397508542 0.00004
NM_000492.4(CFTR):c.3038C>A (p.Pro1013His) rs193922516 0.00003
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 0.00003
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988 0.00003
NM_000492.4(CFTR):c.3239A>G (p.Lys1080Arg) rs564165440 0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761 0.00003
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000492.4(CFTR):c.3033A>G (p.Leu1011=) rs773752573 0.00002
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634 0.00002
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys) rs36210737 0.00002
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val) rs759394109 0.00002
NM_000492.4(CFTR):c.2994A>G (p.Leu998=) rs751537272 0.00001
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val) rs1562914085 0.00001
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=) rs537934752 0.00001
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
NM_000492.4(CFTR):c.3064G>A (p.Val1022Met) rs144441835 0.00001
NM_000492.4(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498 0.00001
NM_000492.4(CFTR):c.3108C>T (p.Thr1036=) rs773627677 0.00001
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter) rs397508500 0.00001
NM_000492.4(CFTR):c.3139+11G>C rs555185521 0.00001
NM_000492.4(CFTR):c.3139+19G>A rs751210436 0.00001
NM_000492.4(CFTR):c.3139+3A>G rs950336425 0.00001
NM_000492.4(CFTR):c.3139+8A>G rs193922517 0.00001
NM_000492.4(CFTR):c.3139_3139+1del rs397508505 0.00001
NM_000492.4(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr) rs397508510 0.00001
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His) rs121909019 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys) rs764434414 0.00001
NM_000492.4(CFTR):c.3282A>G (p.Ser1094=) rs757727766 0.00001
NM_000492.4(CFTR):c.3288G>A (p.Leu1096=) rs936512397 0.00001
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.3306A>G (p.Arg1102=) rs746620950 0.00001
NM_000492.4(CFTR):c.3308T>C (p.Ile1103Thr) rs1161781532 0.00001
NM_000492.4(CFTR):c.3350T>C (p.Ile1117Thr) rs751853765 0.00001
NC_000007.14:g.(?_117610509)_(117614723_?)del
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2989-2A>G rs193922515
NM_000492.4(CFTR):c.2989-313A>T rs1584821306
NM_000492.4(CFTR):c.2989-3C>T
NM_000492.4(CFTR):c.2989-6T>C
NM_000492.4(CFTR):c.2991G>A (p.Leu997=) rs1800111
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile) rs2116080345
NM_000492.4(CFTR):c.2994del (p.Leu998fs) rs749963273
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.4(CFTR):c.2998del (p.Ile1000fs) rs397508475
NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met) rs193922731
NM_000492.4(CFTR):c.3003G>A (p.Val1001=)
NM_000492.4(CFTR):c.3003G>T (p.Val1001=) rs1377312539
NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)
NM_000492.4(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.4(CFTR):c.3011del (p.Ala1004fs) rs1562914082
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs) rs1792366769
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)
NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)
NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)
NM_000492.4(CFTR):c.3060G>A (p.Val1020=) rs1584821629
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.4(CFTR):c.3064G>C (p.Val1022Leu) rs144441835
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.3065T>C (p.Val1022Ala)
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.4(CFTR):c.3068T>G (p.Ile1023Arg) rs756219310
NM_000492.4(CFTR):c.3075T>G (p.Ala1025=) rs2116080954
NM_000492.4(CFTR):c.3081T>A (p.Ile1027=)
NM_000492.4(CFTR):c.3093A>G (p.Ala1031=)
NM_000492.4(CFTR):c.3093A>T (p.Ala1031=)
NM_000492.4(CFTR):c.3099C>A (p.Phe1033Leu)
NM_000492.4(CFTR):c.3100C>T (p.Leu1034Phe) rs1554392043
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg) rs1792369943
NM_000492.4(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3114G>A (p.Gln1038=) rs2116081223
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
NM_000492.4(CFTR):c.3120C>T (p.Leu1040=)
NM_000492.4(CFTR):c.3129G>A (p.Leu1043=)
NM_000492.4(CFTR):c.3139+10T>C
NM_000492.4(CFTR):c.3139+17G>A
NM_000492.4(CFTR):c.3139+17G>T
NM_000492.4(CFTR):c.3139+42A>G
NM_000492.4(CFTR):c.3139+9G>T rs2116081422
NM_000492.4(CFTR):c.3139+9del rs749651092
NM_000492.4(CFTR):c.3139G>A (p.Gly1047Ser) rs397508504
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys) rs397508504
NM_000492.4(CFTR):c.3140-11A>G
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3140-16T>C
NM_000492.4(CFTR):c.3140-17A>G rs1383455542
NM_000492.4(CFTR):c.3140-4A>G rs397508507
NM_000492.4(CFTR):c.3140-9A>G rs1792386089
NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)
NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser) rs1792386620
NM_000492.4(CFTR):c.3159T>A (p.Thr1053=) rs1792386675
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu) rs1417435640
NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)
NM_000492.4(CFTR):c.3162T>C (p.His1054=) rs199990040
NM_000492.4(CFTR):c.3175T>C (p.Leu1059=)
NM_000492.4(CFTR):c.3178A>G (p.Lys1060Glu) rs1244798983
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.4(CFTR):c.3183A>G (p.Gly1061=) rs2116084312
NM_000492.4(CFTR):c.3184C>T (p.Leu1062=)
NM_000492.4(CFTR):c.3185T>C (p.Leu1062Pro) rs2116084329
NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs) rs2116084282
NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter) rs397508514
NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro) rs78769542
NM_000492.4(CFTR):c.3210G>A (p.Arg1070=) rs1792388976
NM_000492.4(CFTR):c.3213G>A (p.Gln1071=)
NM_000492.4(CFTR):c.3219C>T (p.Tyr1073=) rs1792389293
NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) rs397508518
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.4(CFTR):c.3237C>T (p.His1079=) rs2116084700
NM_000492.4(CFTR):c.3254A>C (p.His1085Pro) rs79635528
NM_000492.4(CFTR):c.3256A>G (p.Thr1086Ala) rs373043500
NM_000492.4(CFTR):c.3256A>T (p.Thr1086Ser) rs373043500
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter) rs121908761
NM_000492.4(CFTR):c.3279G>T (p.Leu1093=)
NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)
NM_000492.4(CFTR):c.3285A>G (p.Thr1095=)
NM_000492.4(CFTR):c.3287del (p.Leu1096fs) rs397508529
NM_000492.4(CFTR):c.3288G>T (p.Leu1096=) rs936512397
NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.4(CFTR):c.3294G>A (p.Trp1098Ter) rs397508533
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3297C>T (p.Phe1099=)
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.4(CFTR):c.3303G>A (p.Met1101Ile) rs777445862
NM_000492.4(CFTR):c.3303_3304delinsAG (p.Met1101_Arg1102delinsIleGly)
NM_000492.4(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.4(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile) rs1792392768
NM_000492.4(CFTR):c.3318T>A (p.Ile1106=) rs2116085302
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) rs1584822486
NM_000492.4(CFTR):c.3322del (p.Val1108fs) rs2116085331
NM_000492.4(CFTR):c.3324C>A (p.Val1108=) rs2116085344
NM_000492.4(CFTR):c.3324C>T (p.Val1108=) rs2116085344
NM_000492.4(CFTR):c.3327C>T (p.Ile1109=) rs568020045
NM_000492.4(CFTR):c.3330C>T (p.Phe1110=) rs1584822500
NM_000492.4(CFTR):c.3335T>G (p.Ile1112Ser) rs1792393459
NM_000492.4(CFTR):c.3340G>C (p.Val1114Leu)
NM_000492.4(CFTR):c.3349A>C (p.Ile1117Leu)
NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3361ACA[1] (p.Thr1122del) rs1554392295
NM_000492.4(CFTR):c.3364A>G (p.Thr1122Ala) rs1584822533
NM_000492.4(CFTR):c.3367+10A>G
NM_000492.4(CFTR):c.3367+10A>T rs2116085669
NM_000492.4(CFTR):c.3367+18_3367+23del
NM_000492.4(CFTR):c.3367+19C>T
NM_000492.4(CFTR):c.3367+1G>A rs1470125842
NM_000492.4(CFTR):c.3367+1G>T
NM_000492.4(CFTR):c.3367+3A>G rs1194763712
NM_000492.4(CFTR):c.3367+8G>A rs2116085662
NM_000492.4(CFTR):c.3367+9A>G

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