ClinVar Miner

List of variants in gene CFTR reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Total variants: 61
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HGVS dbSNP
NM_000492.3(CFTR):c.1001G>A (p.Arg334Gln) rs397508137
NM_000492.3(CFTR):c.1054C>T (p.Arg352Trp) rs193922497
NM_000492.3(CFTR):c.1116+31A>C rs201524392
NM_000492.3(CFTR):c.1210-12_1210-11insG rs4148705
NM_000492.3(CFTR):c.1360_1381delinsATAGAAA (p.Leu454_Gly461delinsIleGluArg) rs1554382656
NM_000492.3(CFTR):c.1364C>T (p.Ala455Val) rs74551128
NM_000492.3(CFTR):c.1392+42T>C rs367758627
NM_000492.3(CFTR):c.1429C>T (p.Pro477Ser) rs139054556
NM_000492.3(CFTR):c.1440T>G (p.Gly480=) rs1800090
NM_000492.3(CFTR):c.1486T>C (p.Trp496Arg) rs1554384382
NM_000492.3(CFTR):c.1584+36A>G rs752908476
NM_000492.3(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.3(CFTR):c.1585-9395C>G rs77164005
NM_000492.3(CFTR):c.1680-829C>G rs1554388879
NM_000492.3(CFTR):c.1724T>A (p.Phe575Tyr) rs773569201
NM_000492.3(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.3(CFTR):c.1766+86C>A rs143250367
NM_000492.3(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2015_2017del (p.Glu672del) rs397508330
NM_000492.3(CFTR):c.2147_2148delAGins14 (p.?)
NM_000492.3(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.3(CFTR):c.2380G>A (p.Val794Met) rs1457489949
NM_000492.3(CFTR):c.2490+14G>T rs573016418
NM_000492.3(CFTR):c.2490+5G>T rs764466147
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.273+8T>A rs1189108407
NM_000492.3(CFTR):c.2732G>C (p.Ser911Thr) rs746301481
NM_000492.3(CFTR):c.2813T>G (p.Val938Gly) rs193922511
NM_000492.3(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.3(CFTR):c.2988+99T>C rs148764664
NM_000492.3(CFTR):c.29G>A (p.Ser10Asn) rs762241850
NM_000492.3(CFTR):c.3376_3381dup rs1554392764
NM_000492.3(CFTR):c.340_342del (p.Lys114del) rs1554379808
NM_000492.3(CFTR):c.3420G>A (p.Met1140Ile) rs1554392775
NM_000492.3(CFTR):c.3429G>A (p.Leu1143=) rs375845215
NM_000492.3(CFTR):c.3469-17T>C rs199630678
NM_000492.3(CFTR):c.3485G>A (p.Arg1162Gln) rs1800120
NM_000492.3(CFTR):c.349C>G (p.Arg117Gly) rs77834169
NM_000492.3(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.3(CFTR):c.3872A>G (p.Gln1291Arg) rs397508621
NM_000492.3(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.3(CFTR):c.3935A>G (p.Asp1312Gly) rs397508646
NM_000492.3(CFTR):c.3983T>C (p.Ile1328Thr) rs115762793
NM_000492.3(CFTR):c.4056G>T (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.4085G>A (p.Ser1362Asn) rs777892053
NM_000492.3(CFTR):c.4115C>T (p.Pro1372Leu) rs397508677
NM_000492.3(CFTR):c.4162C>G (p.Leu1388Val) rs1554397584
NM_000492.3(CFTR):c.418C>T (p.Pro140Ser) rs145900055
NM_000492.3(CFTR):c.53+45A>G rs372316624
NM_000492.3(CFTR):c.598T>A (p.Phe200Ile) rs397508766
NM_000492.3(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.744-32A>G rs1562890936
NM_000492.3(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.3(CFTR):c.869+8G>C rs773933167
NM_000492.3(CFTR):c.870-7_870-5del rs759762840
NM_000492.3(CFTR):c.918T>C (p.Asn306=) rs200046355
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.925G>A (p.Ala309Thr) rs148013312
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686

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