ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 89
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_000492.4(CFTR):c.3139+101C>G rs397508502 0.00077
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000492.4(CFTR):c.3289C>T (p.Arg1097Cys) rs201591901 0.00006
NM_000492.4(CFTR):c.3204C>T (p.Phe1068=) rs1800116 0.00005
NM_000492.4(CFTR):c.3180A>G (p.Lys1060=) rs142526976 0.00004
NM_000492.4(CFTR):c.3177A>G (p.Leu1059=) rs1800113 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.2994A>G (p.Leu998=) rs751537272 0.00001
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=) rs537934752 0.00001
NM_000492.4(CFTR):c.3108C>T (p.Thr1036=) rs773627677 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+8A>G rs193922517 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.3306A>G (p.Arg1102=) rs746620950 0.00001
NM_000492.4(CFTR):c.2989-6T>C
NM_000492.4(CFTR):c.2991G>A (p.Leu997=) rs1800111
NM_000492.4(CFTR):c.3000T>C (p.Ile1000=)
NM_000492.4(CFTR):c.3003G>A (p.Val1001=)
NM_000492.4(CFTR):c.3003G>T (p.Val1001=) rs1377312539
NM_000492.4(CFTR):c.3006T>A (p.Ile1002=)
NM_000492.4(CFTR):c.3009A>C (p.Gly1003=)
NM_000492.4(CFTR):c.3025G>T (p.Ala1009Ser)
NM_000492.4(CFTR):c.3027A>G (p.Ala1009=)
NM_000492.4(CFTR):c.3027A>T (p.Ala1009=)
NM_000492.4(CFTR):c.3042C>T (p.Tyr1014=)
NM_000492.4(CFTR):c.3045C>A (p.Ile1015=)
NM_000492.4(CFTR):c.3045C>T (p.Ile1015=)
NM_000492.4(CFTR):c.3060G>A (p.Val1020=) rs1584821629
NM_000492.4(CFTR):c.3060G>T (p.Val1020=)
NM_000492.4(CFTR):c.3063A>G (p.Pro1021=)
NM_000492.4(CFTR):c.3066G>A (p.Val1022=)
NM_000492.4(CFTR):c.3075T>G (p.Ala1025=) rs2116080954
NM_000492.4(CFTR):c.3081T>A (p.Ile1027=)
NM_000492.4(CFTR):c.3090A>G (p.Arg1030=)
NM_000492.4(CFTR):c.3093A>C (p.Ala1031=)
NM_000492.4(CFTR):c.3093A>G (p.Ala1031=)
NM_000492.4(CFTR):c.3093A>T (p.Ala1031=)
NM_000492.4(CFTR):c.3114G>A (p.Gln1038=) rs2116081223
NM_000492.4(CFTR):c.3117A>G (p.Gln1039=)
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.3140-16T>C
NM_000492.4(CFTR):c.3140-17A>G rs1383455542
NM_000492.4(CFTR):c.3140-9A>G rs1792386089
NM_000492.4(CFTR):c.3141C>G (p.Gly1047=)
NM_000492.4(CFTR):c.3142A>C (p.Arg1048=)
NM_000492.4(CFTR):c.3156C>T (p.Phe1052=)
NM_000492.4(CFTR):c.3159T>A (p.Thr1053=) rs1792386675
NM_000492.4(CFTR):c.3162T>C (p.His1054=) rs199990040
NM_000492.4(CFTR):c.3174C>T (p.Ser1058=) rs1792387133
NM_000492.4(CFTR):c.3175T>C (p.Leu1059=)
NM_000492.4(CFTR):c.3183A>G (p.Gly1061=) rs2116084312
NM_000492.4(CFTR):c.3184C>T (p.Leu1062=)
NM_000492.4(CFTR):c.3186A>G (p.Leu1062=)
NM_000492.4(CFTR):c.3186A>T (p.Leu1062=)
NM_000492.4(CFTR):c.3192A>T (p.Thr1064=)
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.3237C>T (p.His1079=) rs2116084700
NM_000492.4(CFTR):c.3249T>C (p.Asn1083=)
NM_000492.4(CFTR):c.3273G>A (p.Leu1091=)
NM_000492.4(CFTR):c.3279G>T (p.Leu1093=)
NM_000492.4(CFTR):c.3285A>G (p.Thr1095=)
NM_000492.4(CFTR):c.3286C>T (p.Leu1096=)
NM_000492.4(CFTR):c.3288G>T (p.Leu1096=) rs936512397
NM_000492.4(CFTR):c.3297C>T (p.Phe1099=)
NM_000492.4(CFTR):c.3318T>A (p.Ile1106=) rs2116085302
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.3333C>T (p.Phe1111=) rs144135742
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+8G>A rs2116085662
NM_000492.4(CFTR):c.3367+9A>G

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