ClinVar Miner

List of variants studied for congenital pulmonary veins anomaly

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 116
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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 0.02277
NM_001451.3(FOXF1):c.873C>T (p.Ser291=) rs61753347 0.01583
NM_014391.3(ANKRD1):c.346-15_346-14insA rs60700562 0.01084
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=) rs112197095 0.00477
NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn) rs200676463 0.00467
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_001719.3(BMP7):c.962A>G (p.Asn321Ser) rs61733438 0.00277
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_001451.3(FOXF1):c.969C>A (p.Ala323=) rs144309953 0.00081
NM_001451.3(FOXF1):c.895C>A (p.Pro299Thr) rs8061302 0.00036
NM_014391.3(ANKRD1):c.652-10A>T rs397517252 0.00023
NM_001451.3(FOXF1):c.579C>A (p.Gly193=) rs758098808 0.00013
NM_001127392.3(MYRF):c.2201C>T (p.Ala734Val) rs399122 0.00012
NM_001127392.3(MYRF):c.1063C>T (p.Pro355Ser) rs200349251 0.00011
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_001451.3(FOXF1):c.636G>C (p.Ser212=) rs776649998 0.00001
NM_014391.3(ANKRD1):c.710A>G (p.His237Arg) rs145326465 0.00001
46;XY;t(9;16)(p24;q22)dn
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)
GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)
GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)
GRCh38/hg38 15q21.1(chr15:45092835-45433283)
GRCh38/hg38 16p13.11(chr16:14816348-16678513)
GRCh38/hg38 16p13.3(chr16:3499966-3774794)
GRCh38/hg38 17q12(chr17:36138501-37924067)
GRCh38/hg38 17q21.31(chr17:43603558-44033313)
GRCh38/hg38 17q25.3(chr17:82004063-83087346)
GRCh38/hg38 1p36.32(chr1:2518272-4413203)
GRCh38/hg38 20p11.21(chr20:25121080-25485829)
GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)
GRCh38/hg38 22q13.31(chr22:44184196-45239435)
GRCh38/hg38 2p22.3(chr2:32415095-33099301)
GRCh38/hg38 3q24(chr3:143944349-143982303)
GRCh38/hg38 7q31.2(chr7:116868268-117565389)
GRCh38/hg38 8p23.2(chr8:4079202-4329179)
GRCh38/hg38 9p24.3(chr9:46587-273160)
GRCh38/hg38 9q21.11(chr9:68417620-68744894)
GRCh38/hg38 9q22.33-31.1(chr9:99779833-99839574)
GRCh38/hg38 Xp11.21(chrX:55519984-55625002)
GRCh38/hg38 Xp22.31(chrX:7873079-8504515)
GRCh38/hg38 Xq21.1(chrX:80247518-80444881)
GRCh38/hg38 Xq28(chrX:153151471-153250484)
NC_000016.9:g.86137629_86287477del
NC_000016.9:g.86144118_86289385del
NC_000016.9:g.86243180_87703229del
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)
NM_001451.3(FOXF1):c.1070_1080del (p.His357fs)
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)
NM_001451.3(FOXF1):c.179C>T (p.Ala60Val) rs2143184507
NM_001451.3(FOXF1):c.185A>C (p.Gln62Pro)
NM_001451.3(FOXF1):c.191C>A (p.Ser64Ter) rs1597291235
NM_001451.3(FOXF1):c.21del (p.Lys7fs)
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.238_239del (p.Ser80fs) rs1969549826
NM_001451.3(FOXF1):c.253T>C (p.Phe85Leu) rs1969550135
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) rs1969550367
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.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)
NM_001451.3(FOXF1):c.539C>A (p.Ser180Ter) rs1481006723
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs) rs1969545531
NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp)
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.771G>T (p.Met257Ile)
NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro) rs1969561243
NM_001451.3(FOXF1):c.797C>A (p.Ser266Ter)
NM_001451.3(FOXF1):c.841_862del (p.Gly281fs)
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)
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.950del (p.Asn317fs) rs1969566259
NM_001451.3(FOXF1):c.965del (p.Pro322fs) rs1969566429
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-16_346-15insATA rs60923931
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-14del rs58762441
NM_014391.3(ANKRD1):c.346-19_346-18del rs398014415
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014391.3(ANKRD1):c.346-35_346-12del rs751458325
Single allele

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