List of variants in gene combination CFTR, LOC111674472 reported as pathogenic for cystic fibrosis

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 104

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HGVS	dbSNP	gnomAD frequency
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)	rs150212784	0.00039
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)	rs747754623	0.00011
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.3200C>T (p.Ala1067Val)	rs1800114	0.00005
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)	rs202179988	0.00003
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)	rs121908761	0.00003
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.3107C>A (p.Thr1036Asn)	rs397508498	0.00001
NM_000492.4(CFTR):c.3124C>T (p.Gln1042Ter)	rs397508500	0.00001
NM_000492.4(CFTR):c.3139_3139+1del	rs397508505	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.3294G>C (p.Trp1098Cys)	rs397508533	0.00001
NC_000007.14:g.(?_117610509)_(117614723_?)del
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
NM_000492.3(CFTR):c.2989_3139del151	rs1562914028
NM_000492.3(CFTR):c.[1397C>G;3209G>A]
NM_000492.3(CFTR):c.[1521_1523delCTT;3080T>C]
NM_000492.4(CFTR):c.2620-674_3367+232del
NM_000492.4(CFTR):c.2908+1085_3367+260del
NM_000492.4(CFTR):c.2909-636_3367+1194delinsTAGGGTCCAACTGCAGTCTACTCTGCAGAGTG
NM_000492.4(CFTR):c.2911_3367+2del
NM_000492.4(CFTR):c.2988+1616_3367+356delinsCAAACCCCATCTCTACTAAAAATACAAAATTATCCAGGCATGGTGGTGCGCGCCTGTAATCC
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.2989-908_3085delinsGACAG
NM_000492.4(CFTR):c.2989-977_3367+248del
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.3002_3003del (p.Val1001fs)	rs397508477
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.3032T>G (p.Leu1011Ter)	rs1562914107
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)	rs121908781
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs)	rs121908781
NM_000492.4(CFTR):c.3062C>T (p.Pro1021Leu)	rs1554392023
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del)	rs1554392027
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.3068_3072del (p.Ile1023fs)	rs397508493
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.3110C>A (p.Ser1037Ter)	rs1562914200
NM_000492.4(CFTR):c.3139+1G>A	rs397508503
NM_000492.4(CFTR):c.3139+1del	rs780546355
NM_000492.4(CFTR):c.3140-16T>A
NM_000492.4(CFTR):c.3141_3468+1del
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)	rs397508510
NM_000492.4(CFTR):c.3161del (p.His1054fs)	rs387906377
NM_000492.4(CFTR):c.3180del (p.Gly1061fs)
NM_000492.4(CFTR):c.3181G>C (p.Gly1061Arg)	rs142394380
NM_000492.4(CFTR):c.3184_3188dup (p.Trp1063fs)	rs387906366
NM_000492.4(CFTR):c.3185_3191del (p.Leu1062fs)	rs2116084282
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)	rs1562914641
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter)	rs397508514
NM_000492.4(CFTR):c.3191_3192insTTTTAAGCTTAAAAGG (p.Leu1065fs)	rs1584822237
NM_000492.4(CFTR):c.3192_3276del (p.Leu1065fs)
NM_000492.4(CFTR):c.3194T>C (p.Leu1065Pro)	rs121909036
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)	rs121909036
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu)	rs121909019
NM_000492.4(CFTR):c.3199G>A (p.Ala1067Thr)	rs121909020
NM_000492.4(CFTR):c.3211C>T (p.Gln1071Ter)	rs397508517
NM_000492.4(CFTR):c.3212A>C (p.Gln1071Pro)	rs121909037
NM_000492.4(CFTR):c.3217dup (p.Tyr1073fs)	rs768963919
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.3254A>G (p.His1085Arg)	rs79635528
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs)	rs397508524
NM_000492.4(CFTR):c.3264del (p.Trp1089fs)	rs397508525
NM_000492.4(CFTR):c.3267G>A (p.Trp1089Ter)	rs150020260
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)	rs121908761
NM_000492.4(CFTR):c.3281C>G (p.Ser1094Ter)
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA	rs1554392248
NM_000492.4(CFTR):c.3287del (p.Leu1096fs)	rs397508529
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.3293G>C (p.Trp1098Ser)
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.3294del (p.Trp1098fs)	rs397508534
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.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.3322_3323del (p.Val1108fs)
NM_000492.4(CFTR):c.3322del (p.Val1108fs)	rs2116085331
NM_000492.4(CFTR):c.3324del (p.Ile1109fs)	rs1554392282
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)	rs1562914838
NM_000492.4(CFTR):c.3351_3352del (p.Ser1118fs)
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe)	rs146521846
NM_000492.4(CFTR):c.3367+1G>A	rs1470125842
NM_000492.4(CFTR):c.3367+2T>A	rs397508544

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