ClinVar Miner

List of variants studied for alveolar capillary dysplasia with misalignment of pulmonary veins by Revvity Omics, Revvity

Included ClinVar conditions (2):

Alveolar capillary dysplasia with pulmonary venous misalignment
Alveolar capillary dysplasia with pulmonary venous misalignment; Global developmental delay; Failure to thrive; Microcephaly; Gastroesophageal reflux; Pulmonary lymphangiectasia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001451.3(FOXF1):c.602G>A (p.Gly201Asp)
NM_001451.3(FOXF1):c.691_698del (p.Ala231fs)	rs1597291554
NM_001451.3(FOXF1):c.771G>T (p.Met257Ile)
NM_001451.3(FOXF1):c.841_862del (p.Gly281fs)
NM_001451.3(FOXF1):c.889del (p.Ala297fs)	rs2143187004

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