ClinVar Miner

List of variants reported as likely pathogenic for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 by Johns Hopkins Genomics, Johns Hopkins University

Included ClinVar conditions (4):

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 2; Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1
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
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1

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)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)	rs1748613571
NM_198253.3(TERT):c.3026C>T (p.Ala1009Val)	rs866575708
NM_198253.3(TERT):c.345C>G (p.Phe115Leu)	rs1579598699

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