ClinVar Miner

List of variants reported as likely pathogenic for surfactant metabolism dysfunction, pulmonary, 4 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (1):

Surfactant metabolism dysfunction, pulmonary, 4

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_172245.4(CSF2RA):c.1043+1G>A
NM_172245.4(CSF2RA):c.586G>C (p.Gly196Arg)
NM_172245.4(CSF2RA):c.647-2A>G
NM_172245.4(CSF2RA):c.810+2T>A	rs2148504379

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