List of variants in gene CSF2RA reported as pathogenic for surfactant metabolism dysfunction, pulmonary, 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_172245.4(CSF2RA):c.82C>T (p.Arg28Ter)	rs756203389	0.00002
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.787C>T (p.Gln263Ter)	rs149151916	0.00001
NM_172245.4(CSF2RA):c.140dup (p.Leu47fs)	rs2148312047
NM_172245.4(CSF2RA):c.147G>A (p.Trp49Ter)
NM_172245.4(CSF2RA):c.221del (p.Leu74fs)
NM_172245.4(CSF2RA):c.341C>G (p.Ser114Ter)
NM_172245.4(CSF2RA):c.350_353del (p.Glu117fs)
NM_172245.4(CSF2RA):c.368_377del (p.Asn123fs)	rs2091055139
NM_172245.4(CSF2RA):c.414G>A (p.Trp138Ter)	rs2091060104
NM_172245.4(CSF2RA):c.547del (p.Leu183fs)	rs2148417003
NM_172245.4(CSF2RA):c.669dup (p.Val224fs)
NM_172245.4(CSF2RA):c.865del (p.Arg289fs)
NM_172245.4(CSF2RA):c.917G>A (p.Trp306Ter)	rs2092302661
NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs)	rs1196937077

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