ClinVar Miner

List of variants studied for pulmonary fibrosis by Godley laboratory, The University of Chicago

Included ClinVar conditions (20):

Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Dyskeratosis congenita, autosomal dominant 1; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Dyskeratosis congenita, autosomal recessive 5; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Interstitial lung disease 2
Interstitial lung disease 2; Aplastic anemia; Dyskeratosis congenita, autosomal dominant 1; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1; Melanoma, cutaneous malignant, susceptibility to, 9
Interstitial lung disease 2; Dyskeratosis congenita, autosomal dominant 2
Pulmonary fibrosis
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8
Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 6
Pulmonary fibrosis; Familial Interstitial Pneumonia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NC_000016.9:g.(?_14725823)_(14643928_?)del
NM_002582.4(PARN):c.1006-2A>G	rs1469272825
NM_002582.4(PARN):c.1297C>G (p.Leu433Val)	rs201782700
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)	rs760506977
NM_002582.4(PARN):c.784-170_840+174del	rs1970760757

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