ClinVar Miner

List of variants reported as uncertain significance for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (2):

Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_002582.4(PARN):c.19+4C>T	rs748893191	0.00005
NM_002582.4(PARN):c.840G>A (p.Ser280=)	rs200026431	0.00004

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