ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as uncertain significance for Cystic fibrosis

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Total variants: 128
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784 0.00039
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.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.3121A>C (p.Lys1041Gln) rs769448889 0.00004
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511 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.3239A>G (p.Lys1080Arg) rs564165440 0.00003
NM_000492.4(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758 0.00002
NM_000492.4(CFTR):c.3325A>G (p.Ile1109Val) rs759394109 0.00002
NM_000492.4(CFTR):c.3013A>G (p.Ile1005Val) rs1562914085 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.3083T>G (p.Met1028Arg) rs397508494 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.3158C>T (p.Thr1053Ile) rs140883683 0.00001
NM_000492.4(CFTR):c.3160C>T (p.His1054Tyr) rs397508510 0.00001
NM_000492.4(CFTR):c.3190A>G (p.Thr1064Ala) rs1792387784 0.00001
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772 0.00001
NM_000492.4(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240 0.00001
NM_000492.4(CFTR):c.3267G>C (p.Trp1089Cys) rs150020260 0.00001
NM_000492.4(CFTR):c.3275A>G (p.Tyr1092Cys) rs764434414 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
NM_000492.4(CFTR):c.2989-3C>G rs397508471
NM_000492.4(CFTR):c.2989-3C>T
NM_000492.4(CFTR):c.2991_2993del
NM_000492.4(CFTR):c.2992T>A (p.Leu998Ile) rs2116080345
NM_000492.4(CFTR):c.2994A>C (p.Leu998Phe)
NM_000492.4(CFTR):c.2994A>T (p.Leu998Phe)
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met) rs193922731
NM_000492.4(CFTR):c.3005T>C (p.Ile1002Thr)
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu) rs55803548
NM_000492.4(CFTR):c.3014T>C (p.Ile1005Thr)
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp) rs397508483
NM_000492.4(CFTR):c.3034C>A (p.Gln1012Lys)
NM_000492.4(CFTR):c.3035A>G (p.Gln1012Arg)
NM_000492.4(CFTR):c.3037C>T (p.Pro1013Ser) rs978796108
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3043A>G (p.Ile1015Val)
NM_000492.4(CFTR):c.3061C>A (p.Pro1021Thr) rs397508491
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.3065T>C (p.Val1022Ala)
NM_000492.4(CFTR):c.3065T>G (p.Val1022Gly)
NM_000492.4(CFTR):c.3070G>A (p.Val1024Met)
NM_000492.4(CFTR):c.3071T>A (p.Val1024Glu)
NM_000492.4(CFTR):c.3073G>T (p.Ala1025Ser)
NM_000492.4(CFTR):c.3076T>G (p.Phe1026Val)
NM_000492.4(CFTR):c.3085T>A (p.Leu1029Met)
NM_000492.4(CFTR):c.3092C>G (p.Ala1031Gly)
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>C (p.Leu1034Pro)
NM_000492.4(CFTR):c.3101T>G (p.Leu1034Arg) rs1792369943
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup) rs1469768894
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212
NM_000492.4(CFTR):c.3119T>C (p.Leu1040Pro)
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg) rs1562914220
NM_000492.4(CFTR):c.3125A>G (p.Gln1042Arg)
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe) rs1584821736
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.3140-4A>G rs397508507
NM_000492.4(CFTR):c.3146G>A (p.Ser1049Asn)
NM_000492.4(CFTR):c.3148C>A (p.Pro1050Thr)
NM_000492.4(CFTR):c.3148C>G (p.Pro1050Ala)
NM_000492.4(CFTR):c.3157A>T (p.Thr1053Ser) rs1792386620
NM_000492.4(CFTR):c.3161A>T (p.His1054Leu) rs1417435640
NM_000492.4(CFTR):c.3162T>A (p.His1054Gln)
NM_000492.4(CFTR):c.3178A>G (p.Lys1060Glu) rs1244798983
NM_000492.4(CFTR):c.3185T>C (p.Leu1062Pro) rs2116084329
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser) rs78194216
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.4(CFTR):c.3199G>C (p.Ala1067Pro) rs121909020
NM_000492.4(CFTR):c.3200C>G (p.Ala1067Gly) rs1800114
NM_000492.4(CFTR):c.3202T>G (p.Phe1068Val)
NM_000492.4(CFTR):c.3214C>T (p.Pro1072Ser) rs1584822281
NM_000492.4(CFTR):c.3215C>A (p.Pro1072His)
NM_000492.4(CFTR):c.3226A>C (p.Thr1076Pro)
NM_000492.4(CFTR):c.3226A>G (p.Thr1076Ala)
NM_000492.4(CFTR):c.3235C>T (p.His1079Tyr)
NM_000492.4(CFTR):c.3247A>G (p.Asn1083Asp)
NM_000492.4(CFTR):c.3249T>A (p.Asn1083Lys) rs1584822326
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.3257C>T (p.Thr1086Ile) rs77958296
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3266G>T (p.Trp1089Leu)
NM_000492.4(CFTR):c.3270C>G (p.Phe1090Leu)
NM_000492.4(CFTR):c.3277C>G (p.Leu1093Val)
NM_000492.4(CFTR):c.3280T>C (p.Ser1094Pro)
NM_000492.4(CFTR):c.3290G>C (p.Arg1097Pro)
NM_000492.4(CFTR):c.3292T>G (p.Trp1098Gly) rs397508531
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.3306A>C (p.Arg1102Ser)
NM_000492.4(CFTR):c.3308T>G (p.Ile1103Arg)
NM_000492.4(CFTR):c.3315G>T (p.Met1105Ile) rs1792392768
NM_000492.4(CFTR):c.3319T>C (p.Phe1107Leu) rs1584822486
NM_000492.4(CFTR):c.3322G>A (p.Val1108Ile)
NM_000492.4(CFTR):c.3326T>C (p.Ile1109Thr)
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del) rs1562914829
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.3349A>G (p.Ile1117Val)
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.4(CFTR):c.3355A>T (p.Ile1119Phe)
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+3A>G rs1194763712
NM_000492.4(CFTR):c.3367+6A>G rs397508545

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