ClinVar Miner

List of variants in gene combination CFTR, LOC111674472 reported as not provided

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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000492.4(CFTR):c.3322G>C (p.Val1108Leu) rs397508542 0.00004
NM_000492.4(CFTR):c.3047T>C (p.Phe1016Ser) rs397508488 0.00001
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.3294G>C (p.Trp1098Cys) rs397508533 0.00001
NM_000492.4(CFTR):c.2989-3C>G rs397508471
NM_000492.4(CFTR):c.2998_3019del (p.Ile1000fs) rs397508474
NM_000492.4(CFTR):c.2998del (p.Ile1000fs) rs397508475
NM_000492.4(CFTR):c.3007G>T (p.Gly1003Ter) rs397508478
NM_000492.4(CFTR):c.3008G>A (p.Gly1003Glu) rs55803548
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg) rs397508479
NM_000492.4(CFTR):c.3017C>A (p.Ala1006Glu) rs397508480
NM_000492.4(CFTR):c.3021del (p.Val1008fs) rs397508481
NM_000492.4(CFTR):c.3023T>A (p.Val1008Asp) rs397508483
NM_000492.4(CFTR):c.3038C>T (p.Pro1013Leu) rs193922516
NM_000492.4(CFTR):c.3039dup (p.Tyr1014fs) rs121908781
NM_000492.4(CFTR):c.3061C>T (p.Pro1021Ser) rs397508491
NM_000492.4(CFTR):c.3064_3117del (p.Val1022_Gln1039del) rs1554392027
NM_000492.4(CFTR):c.3084G>T (p.Met1028Ile) rs200553511
NM_000492.4(CFTR):c.3139+1G>T rs397508503
NM_000492.4(CFTR):c.3139G>C (p.Gly1047Arg) rs397508504
NM_000492.4(CFTR):c.3140-4A>G rs397508507
NM_000492.4(CFTR):c.3176T>G (p.Leu1059Ter) rs397508512
NM_000492.4(CFTR):c.3179A>C (p.Lys1060Thr) rs397508513
NM_000492.4(CFTR):c.3189G>A (p.Trp1063Ter) rs397508514
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg) rs121909036
NM_000492.4(CFTR):c.3196C>A (p.Arg1066Ser) rs78194216
NM_000492.4(CFTR):c.3197G>T (p.Arg1066Leu) rs121909019
NM_000492.4(CFTR):c.3209G>C (p.Arg1070Pro) rs78769542
NM_000492.4(CFTR):c.3229_3230del (p.Leu1077fs) rs397508518
NM_000492.4(CFTR):c.3241G>C (p.Ala1081Pro) rs397508521
NM_000492.4(CFTR):c.3262A>G (p.Asn1088Asp) rs397508523
NM_000492.4(CFTR):c.3263dup (p.Asn1088fs) rs397508524
NM_000492.4(CFTR):c.3264del (p.Trp1089fs) rs397508525
NM_000492.4(CFTR):c.3278T>C (p.Leu1093Pro) rs397508527
NM_000492.4(CFTR):c.3281_3367+268delinsTGTTAA rs1554392248
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg) rs397508531
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3314T>G (p.Met1105Arg) rs397508539
NM_000492.4(CFTR):c.3315del (p.Met1105fs) rs397508540
NM_000492.4(CFTR):c.3353C>G (p.Ser1118Cys) rs146521846
NM_000492.4(CFTR):c.3353C>T (p.Ser1118Phe) rs146521846
NM_000492.4(CFTR):c.3367+6A>G rs397508545
NM_000492.4(CFTR):c.3367G>C (p.Gly1123Arg) rs397508546

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