ClinVar Miner

List of variants reported as benign for pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 by Fulgent Genetics, Fulgent Genetics

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.915G>A (p.Ala305=)	rs2736098	0.21206
NM_198253.3(TERT):c.2383-15C>T	rs574645600	0.00013

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