List of variants studied for Interstitial lung disease due to ABCA3 deficiency by Genome-Nilou Lab

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=)	rs149532	0.87571
NM_001089.3(ABCA3):c.319+50G>A	rs46725	0.83798
NM_001089.3(ABCA3):c.1741+33A>G	rs170447	0.44738
NM_001089.3(ABCA3):c.2701-33G>C	rs313908
NM_001089.3(ABCA3):c.448-97G>T	rs323060
NM_001089.3(ABCA3):c.873+84dup	rs5815117

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