ClinVar Miner

List of variants reported as uncertain significance for Idiopathic fibrosing alveolitis, chronic form; Aplastic anemia; Dyskeratosis congenita autosomal dominant; Acute myeloid leukemia; Dyskeratosis congenita, autosomal dominant, 2; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1; Cutaneous malignant melanoma 9 by Fulgent Genetics,Fulgent Genetics

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Total variants: 6
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HGVS dbSNP
NM_001193376.2(TERT):c.887A>C (p.His296Pro) rs778187343
NM_198253.2(TERT):c.1393G>C (p.Val465Leu) rs758110675
NM_198253.2(TERT):c.150G>A (p.Leu50=) rs886044153
NM_198253.2(TERT):c.159G>C (p.Gln53His) rs1060503006
NM_198253.2(TERT):c.2287-5G>A rs561426406
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248

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