ClinVar Miner

List of variants reported as pathogenic for alveolar capillary dysplasia with misalignment of pulmonary veins

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
46;XY;t(9;16)(p24;q22)dn
GRCh37/hg19 16q24.1-24.2(chr16:84872102-87678641)
NC_000016.9:g.86137629_86287477del
NC_000016.9:g.86144118_86289385del
NC_000016.9:g.86243180_87703229del
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.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.145C>G (p.Pro49Ala) rs1597291206
NM_001451.3(FOXF1):c.145C>T (p.Pro49Ser) rs1597291206
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.276G>A (p.Trp92Ter) rs2143184846
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.539C>A (p.Ser180Ter) rs1481006723
NM_001451.3(FOXF1):c.57_60del (p.Gly20fs) rs1969545531
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.797C>A (p.Ser266Ter)
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.965del (p.Pro322fs) rs1969566429

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