ClinVar Miner

List of variants in gene FOXF1 studied for Alveolar capillary dysplasia with pulmonary venous misalignment

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Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_001451.3(FOXF1):c.*309_*310insT rs11392376 0.46626
NM_001451.3(FOXF1):c.645C>T (p.His215=) rs61740819 0.02118
NM_001451.3(FOXF1):c.873C>T (p.Ser291=) rs61753347 0.01493
NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn) rs200676463 0.00467
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=) rs112197095 0.00437
NM_001451.3(FOXF1):c.969C>A (p.Ala323=) rs144309953 0.00080
NM_001451.3(FOXF1):c.895C>A (p.Pro299Thr) rs8061302 0.00033
NM_001451.3(FOXF1):c.579C>A (p.Gly193=) rs758098808 0.00005
NM_001451.3(FOXF1):c.771G>T (p.Met257Ile) rs997423935 0.00003
NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp) rs956913310 0.00002
NM_001451.3(FOXF1):c.636G>C (p.Ser212=) rs776649998 0.00001
NM_001451.3(FOXF1):c.*1175_*1176del rs397854726
NM_001451.3(FOXF1):c.*1176del rs397854726
NM_001451.3(FOXF1):c.*123dup rs886052379
NM_001451.3(FOXF1):c.*1298dup rs886052386
NM_001451.3(FOXF1):c.*310_*311insT rs67178865
NM_001451.3(FOXF1):c.*471_*472dup rs56130003
NM_001451.3(FOXF1):c.*472dup rs56130003
NM_001451.3(FOXF1):c.-2C>T rs1969543882
NM_001451.3(FOXF1):c.1031_1032del (p.Phe344fs) rs1597292524
NM_001451.3(FOXF1):c.1057_1078dup (p.Gly360fs) rs1969592103
NM_001451.3(FOXF1):c.1070A>T (p.His357Leu) rs1969592363
NM_001451.3(FOXF1):c.1070_1080del (p.His357fs) rs2507454270
NM_001451.3(FOXF1):c.1138T>A (p.Ter380Arg) rs121909337
NM_001451.3(FOXF1):c.1138T>C (p.Ter380Arg) rs121909337
NM_001451.3(FOXF1):c.1139G>C (p.Ter380Ser) rs1597292620
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) rs1567511932
NM_001451.3(FOXF1):c.145C>G (p.Pro49Ala) rs1597291206
NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) rs1597291206
NM_001451.3(FOXF1):c.166C>G (p.Leu56Val) rs1969548621
NM_001451.3(FOXF1):c.166C>T (p.Leu56Phe) rs1969548621
NM_001451.3(FOXF1):c.179C>T (p.Ala60Val) rs2143184507
NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro) rs2507450358
NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter) rs1597291235
NM_001451.3(FOXF1):c.21del (p.Lys7fs) rs2471967457
NM_001451.3(FOXF1):c.221T>A (p.Ile74Asn) rs1597291255
NM_001451.3(FOXF1):c.225C>A (p.Tyr75Ter) rs121909336
NM_001451.3(FOXF1):c.229T>C (p.Phe77Leu)
NM_001451.3(FOXF1):c.238_239del (p.Ser80fs) rs1969549826
NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu) rs1969550135
NM_001451.3(FOXF1):c.255C>G (p.Phe85Leu)
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp) rs2507450474
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) rs1969550367
NM_001451.3(FOXF1):c.268C>T (p.Gln90Ter) rs2507450502
NM_001451.3(FOXF1):c.275G>C (p.Trp92Ser)
NM_001451.3(FOXF1):c.276G>A (p.Trp92Ter) rs2143184846
NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) rs1057518868
NM_001451.3(FOXF1):c.286G>T (p.Val96Leu) rs1969550532
NM_001451.3(FOXF1):c.294C>A (p.His98Gln) rs1597291300
NM_001451.3(FOXF1):c.298C>G (p.Leu100Val) rs2507450540
NM_001451.3(FOXF1):c.302C>T (p.Ser101Leu) rs1969550671
NM_001451.3(FOXF1):c.316T>C (p.Phe106Leu) rs1597291318
NM_001451.3(FOXF1):c.36CGG[9] (p.Gly23dup) rs574179816
NM_001451.3(FOXF1):c.413G>C (p.Arg138Pro) rs1597291380
NM_001451.3(FOXF1):c.47_48insGCGGCGGCGGCGGGGGAG (p.Gly16_Gly17insArgArgArgArgGlySer) rs2507450043
NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter) rs1481006723
NM_001451.3(FOXF1):c.60_62del (p.Gly23del) rs757668134
NM_001451.3(FOXF1):c.668C>A (p.Ser223Ter) rs1393788111
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs) rs1597291554
NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro) rs1969561243
NM_001451.3(FOXF1):c.797C>A (p.Ser266Ter) rs1030195503
NM_001451.3(FOXF1):c.802_805del (p.Ala268fs) rs2507451417
NM_001451.3(FOXF1):c.841_862del (p.Gly281fs) rs2507451617
NM_001451.3(FOXF1):c.849_850del (p.Ile285fs) rs1597291710
NM_001451.3(FOXF1):c.850dup (p.Tyr284fs) rs2143186824
NM_001451.3(FOXF1):c.852_856del (p.Tyr284_Lys286delinsTer) rs2143186831
NM_001451.3(FOXF1):c.862C>T (p.Gln288Ter) rs1597291719
NM_001451.3(FOXF1):c.872_879del (p.Leu290_Ser291insTer) rs1597291722
NM_001451.3(FOXF1):c.881_902dup (p.Gly302fs) rs2507451729
NM_001451.3(FOXF1):c.887C>T (p.Ala296Val)
NM_001451.3(FOXF1):c.889del (p.Ala297fs) rs2143187004
NM_001451.3(FOXF1):c.899_903dup (p.Gly302fs) rs1597291767
NM_001451.3(FOXF1):c.89C>A (p.Ser30Ter) rs376766270
NM_001451.3(FOXF1):c.927G>T (p.Leu309=) rs375348663
NM_001451.3(FOXF1):c.92C>G (p.Ser31Cys)
NM_001451.3(FOXF1):c.950del (p.Asn317fs) rs1969566259
NM_001451.3(FOXF1):c.965del (p.Pro322fs) rs1969566429

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