ClinVar Miner

List of variants in gene combination LOC110806263, TERT reported as pathogenic for pulmonary fibrosis

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
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_198253.3(TERT):c.10_11dup (p.Pro5fs)	rs2126693109
NM_198253.3(TERT):c.131dup (p.Ala45fs)
NM_198253.3(TERT):c.162C>A (p.Cys54Ter)	rs1751289309
NM_198253.3(TERT):c.164T>A (p.Leu55Gln)	rs387907247
NM_198253.3(TERT):c.16_37del (p.Arg6fs)
NM_198253.3(TERT):c.180G>A (p.Trp60Ter)	rs1554043139
NM_198253.3(TERT):c.198dup (p.Ala67fs)	rs2126691416
NM_198253.3(TERT):c.219+1G>A	rs199422309
NM_198253.3(TERT):c.247C>T (p.Arg83Ter)	rs867642414
NM_198253.3(TERT):c.57_58del (p.Glu20fs)
NM_198253.3(TERT):c.89_98del (p.Arg30fs)

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