ClinVar Miner

List of variants reported as likely benign for alveolar capillary dysplasia with misalignment of pulmonary veins by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001451.3(FOXF1):c.969C>A (p.Ala323=) rs144309953 0.00081
NM_001451.3(FOXF1):c.579C>A (p.Gly193=) rs758098808 0.00013
NM_001451.3(FOXF1):c.780_781delinsTC (p.Ala261Pro) rs1969561243
NM_001451.3(FOXF1):c.927G>T (p.Leu309=) rs375348663

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