ClinVar Miner

List of variants in gene FOXF1 reported as likely pathogenic for alveolar capillary dysplasia with misalignment of pulmonary veins

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001451.3(FOXF1):c.1140A>C (p.Ter380Cys) rs1567511932
NM_001451.3(FOXF1):c.166C>G (p.Leu56Val) rs1969548621
NM_001451.3(FOXF1):c.179C>T (p.Ala60Val) rs2143184507
NM_001451.3(FOXF1):c.256C>T (p.Arg86Trp)
NM_001451.3(FOXF1):c.266A>G (p.Tyr89Cys) rs1969550367
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.413G>C (p.Arg138Pro) rs1597291380
NM_001451.3(FOXF1):c.841_862del (p.Gly281fs)
NM_001451.3(FOXF1):c.950del (p.Asn317fs) rs1969566259

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