List of variants reported as pathogenic for surfactant metabolism dysfunction, pulmonary, 4 by Mendelics

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg)	rs137852353	0.00001
NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter)	rs1395037247	0.00001
NM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter)	rs2091299213	0.00001
NM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter)	rs753455319	0.00001
NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs)	rs1196937077

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