ClinVar Miner

List of variants in gene CFTR, LOC111674472 studied for abdominal and pelvic region disorder

Included ClinVar conditions (902):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 139
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HGVS dbSNP
NC_000007.13:g.(?_117250563)_(117254777_?)del
NC_000007.13:g.117246728_117251862del
NC_000007.13:g.117250573_117254767del
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
NM_000492.3(CFTR):c.2989-1G>A rs397508470
NM_000492.3(CFTR):c.2989-2A>G rs193922515
NM_000492.3(CFTR):c.2989-2A>T rs193922515
NM_000492.3(CFTR):c.2989-3C>G rs397508471
NM_000492.3(CFTR):c.2989-977_3367+248del
NM_000492.3(CFTR):c.2989_3139del151 rs1562914028
NM_000492.3(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.3(CFTR):c.2993del (p.Leu998fs) rs1057516415
NM_000492.3(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.3(CFTR):c.2998_3019del (p.Ile1000fs) rs397508474
NM_000492.3(CFTR):c.2998del (p.Ile1000fs) rs397508475
NM_000492.3(CFTR):c.3000_3001TG[1] (p.Val1001fs) rs397508477
NM_000492.3(CFTR):c.3001G>A (p.Val1001Met)
NM_000492.3(CFTR):c.3007G>T (p.Gly1003Ter) rs397508478
NM_000492.3(CFTR):c.3008G>A (p.Gly1003Glu) rs55803548
NM_000492.3(CFTR):c.3011_3019del (p.Ala1004_Ala1006del) rs1562914072
NM_000492.3(CFTR):c.3011del (p.Ala1004fs) rs1562914082
NM_000492.3(CFTR):c.3013A>G (p.Ile1005Val) rs1562914085
NM_000492.3(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.3(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.3(CFTR):c.3021del (p.Val1008fs) rs397508481
NM_000492.3(CFTR):c.3022del (p.Val1008fs) rs397508482
NM_000492.3(CFTR):c.3023T>A (p.Val1008Asp) rs397508483
NM_000492.3(CFTR):c.3025G>A (p.Ala1009Thr) rs184724618
NM_000492.3(CFTR):c.3032T>G (p.Leu1011Ter) rs1562914107
NM_000492.3(CFTR):c.3038C>A (p.Pro1013His) rs193922516
NM_000492.3(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.3(CFTR):c.3039del (p.Tyr1014fs) rs121908781
NM_000492.3(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.3(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488
NM_000492.3(CFTR):c.3061C>A (p.Pro1021Thr) rs397508491
NM_000492.3(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.3(CFTR):c.3062C>T (p.Pro1021Leu) rs1554392023
NM_000492.3(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3084G>T (p.Met1028Ile) rs200553511
NM_000492.3(CFTR):c.3095A>G (p.Tyr1032Cys) rs144055758
NM_000492.3(CFTR):c.3103C>T (p.Gln1035Ter) rs397508496
NM_000492.3(CFTR):c.3107C>A (p.Thr1036Asn) rs397508498
NM_000492.3(CFTR):c.3107C>T (p.Thr1036Ile) rs397508498
NM_000492.3(CFTR):c.3110C>A (p.Ser1037Ter) rs1562914200
NM_000492.3(CFTR):c.3114_3116dup (p.Gln1039dup) rs1469768894
NM_000492.3(CFTR):c.3118C>T (p.Leu1040Phe) rs1562914212
NM_000492.3(CFTR):c.3122A>G (p.Lys1041Arg) rs1562914220
NM_000492.3(CFTR):c.3124C>T (p.Gln1042Ter) rs397508500
NM_000492.3(CFTR):c.3139+1G>T rs397508503
NM_000492.3(CFTR):c.3139+1delG rs780546355
NM_000492.3(CFTR):c.3139+3A>G rs950336425
NM_000492.3(CFTR):c.3139+8A>G rs193922517
NM_000492.3(CFTR):c.3139G>C (p.Gly1047Arg) rs397508504
NM_000492.3(CFTR):c.3139G>T (p.Gly1047Cys) rs397508504
NM_000492.3(CFTR):c.3139_3139+1delGG rs397508505
NM_000492.3(CFTR):c.3140-1G>A rs397508506
NM_000492.3(CFTR):c.3140-26A>G rs76151804
NM_000492.3(CFTR):c.3140-4A>G rs397508507
NM_000492.3(CFTR):c.3141_3468+1del
NM_000492.3(CFTR):c.3151A>G (p.Ile1051Val) rs374403559
NM_000492.3(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.3(CFTR):c.3158C>T (p.Thr1053Ile) rs140883683
NM_000492.3(CFTR):c.3160C>G (p.His1054Asp) rs397508510
NM_000492.3(CFTR):c.3161A>T (p.His1054Leu) rs1417435640
NM_000492.3(CFTR):c.3161del (p.His1054fs) rs387906377
NM_000492.3(CFTR):c.3169A>G (p.Thr1057Ala) rs397508511
NM_000492.3(CFTR):c.3176T>G (p.Leu1059Ter) rs397508512
NM_000492.3(CFTR):c.3179A>C (p.Lys1060Thr) rs397508513
NM_000492.3(CFTR):c.3181G>C (p.Gly1061Arg) rs142394380
NM_000492.3(CFTR):c.3184_3188dupCTATG (p.Trp1063Cysfs) rs387906366
NM_000492.3(CFTR):c.3188G>A (p.Trp1063Ter) rs1562914641
NM_000492.3(CFTR):c.3189G>A (p.Trp1063Ter) rs397508514
NM_000492.3(CFTR):c.3194T>C (p.Leu1065Pro) rs121909036
NM_000492.3(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.3(CFTR):c.3196C>A (p.Arg1066Ser) rs78194216
NM_000492.3(CFTR):c.3196C>T (p.Arg1066Cys) rs78194216
NM_000492.3(CFTR):c.3197G>A (p.Arg1066His) rs121909019
NM_000492.3(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.3(CFTR):c.3199G>A (p.Ala1067Thr) rs121909020
NM_000492.3(CFTR):c.3199G>C (p.Ala1067Pro) rs121909020
NM_000492.3(CFTR):c.3200C>G (p.Ala1067Gly) rs1800114
NM_000492.3(CFTR):c.3200C>T (p.Ala1067Val) rs1800114
NM_000492.3(CFTR):c.3204C>T (p.Phe1068=) rs1800116
NM_000492.3(CFTR):c.3205G>A (p.Gly1069Arg) rs200321110
NM_000492.3(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.3(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.3(CFTR):c.3209G>C (p.Arg1070Pro) rs78769542
NM_000492.3(CFTR):c.3212A>C (p.Gln1071Pro) rs121909037
NM_000492.3(CFTR):c.3217dup (p.Tyr1073fs) rs768963919
NM_000492.3(CFTR):c.3222T>A (p.Phe1074Leu) rs186045772
NM_000492.3(CFTR):c.3227_3228CT[1] (p.Leu1077fs) rs397508518
NM_000492.3(CFTR):c.3230T>C (p.Leu1077Pro) rs139304906
NM_000492.3(CFTR):c.3231_3232del (p.Phe1078fs) rs779177972
NM_000492.3(CFTR):c.3238A>C (p.Lys1080Gln) rs766126240
NM_000492.3(CFTR):c.3241G>C (p.Ala1081Pro) rs397508521
NM_000492.3(CFTR):c.3254A>G (p.His1085Arg) rs79635528
NM_000492.3(CFTR):c.3256A>T (p.Thr1086Ser) rs373043500
NM_000492.3(CFTR):c.3257C>T (p.Thr1086Ile) rs77958296
NM_000492.3(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.3(CFTR):c.3263dup (p.Asn1088fs) rs397508524
NM_000492.3(CFTR):c.3264del (p.Trp1089fs) rs397508525
NM_000492.3(CFTR):c.3266G>A (p.Trp1089Ter) rs78802634
NM_000492.3(CFTR):c.3274T>C (p.Tyr1092His) rs376968326
NM_000492.3(CFTR):c.3276C>A (p.Tyr1092Ter) rs121908761
NM_000492.3(CFTR):c.3276C>G (p.Tyr1092Ter) rs121908761
NM_000492.3(CFTR):c.3278T>C (p.Leu1093Pro) rs397508527
NM_000492.3(CFTR):c.3281_3367+268del355insTGTTAA rs1554392248
NM_000492.3(CFTR):c.3285A>T (p.Thr1095=) rs1800118
NM_000492.3(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901
NM_000492.3(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.3(CFTR):c.3293G>A (p.Trp1098Ter) rs397508532
NM_000492.3(CFTR):c.3294G>A (p.Trp1098Ter) rs397508533
NM_000492.3(CFTR):c.3294G>C (p.Trp1098Cys) rs397508533
NM_000492.3(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.3(CFTR):c.3297C>A (p.Phe1099Leu) rs747754623
NM_000492.3(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.3(CFTR):c.3302T>A (p.Met1101Lys) rs36210737
NM_000492.3(CFTR):c.3302T>G (p.Met1101Arg) rs36210737
NM_000492.3(CFTR):c.3304A>T (p.Arg1102Ter) rs397508536
NM_000492.3(CFTR):c.3310G>T (p.Glu1104Ter) rs397508538
NM_000492.3(CFTR):c.3314T>G (p.Met1105Arg) rs397508539
NM_000492.3(CFTR):c.3315del (p.Met1105fs) rs397508540
NM_000492.3(CFTR):c.3322G>C (p.Val1108Leu) rs397508542
NM_000492.3(CFTR):c.3324del (p.Ile1109fs) rs1554392282
NM_000492.3(CFTR):c.3328_3330TTC[1] (p.Phe1111del) rs1562914829
NM_000492.3(CFTR):c.3343dup (p.Thr1115fs) rs1562914838
NM_000492.3(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.3(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.3(CFTR):c.3361_3363ACA[1] (p.Thr1122del) rs1554392295
NM_000492.3(CFTR):c.3364A>G (p.Thr1122Ala)
NM_000492.3(CFTR):c.3367+1G>A rs1470125842
NM_000492.3(CFTR):c.3367+2T>A rs397508544
NM_000492.3(CFTR):c.3367+3A>G rs1194763712
NM_000492.3(CFTR):c.3367+6A>G rs397508545
NM_000492.3(CFTR):c.3367G>C (p.Gly1123Arg) rs397508546
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]

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