List of variants studied for hereditary pulmonary alveolar proteinosis by Genome-Nilou Lab

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001089.3(ABCA3):c.448-97G>T	rs323060	0.98534
NM_000542.5(SFTPB):c.856+16A>C	rs893159	0.91858
NM_001089.3(ABCA3):c.4116T>C (p.Ser1372=)	rs149532	0.87571
NM_001089.3(ABCA3):c.319+50G>A	rs46725	0.84923
NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile)	rs1130866	0.56731
NM_001317778.2(SFTPC):c.43-21T>C	rs13248346	0.50352
NM_001089.3(ABCA3):c.1741+33A>G	rs170447	0.44999
NM_000542.5(SFTPB):c.196-8C>A	rs3024798	0.36098
NM_001317778.2(SFTPC):c.*19-39dup	rs3216166	0.35378
NM_000542.5(SFTPB):c.856+29A>G	rs2304566	0.20852
NM_001089.3(ABCA3):c.2701-33G>C	rs313908
NM_001089.3(ABCA3):c.873+84dup	rs5815117
NM_001317778.2(SFTPC):c.201+49C>A	rs2070684

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