ClinVar Miner

List of variants studied for pulmonary fibrosis by Department of Respiratory and Critical Care Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology

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: 12

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_145307.4(RTKN2):c.952dup (p.Tyr318fs)	rs563733406	0.00007
NM_173842.3(IL1RN):c.63A>G (p.Ser21=)	rs763872895	0.00002
NM_002421.4(MMP1):c.988del (p.Ala330fs)	rs753853224	0.00001
NM_198253.3(TERT):c.2594G>A (p.Arg865His)	rs121918666	0.00001
NM_001283009.2(RTEL1):c.3559C>T (p.Gln1187Ter)	rs776525427
NM_001283009.2(RTEL1):c.388_389del (p.Ser130fs)	rs1555899640
NM_002429.6(MMP19):c.1155T>A (p.Tyr385Ter)	rs1555176616
NM_022081.6(HPS4):c.1102dup (p.Asp368fs)	rs1555898206
NM_025099.6(CTC1):c.400dup (p.Tyr134fs)	rs1555535288
NM_032122.5(DTNBP1):c.286G>T (p.Glu96Ter)	rs1415761555
NM_198129.4(LAMA3):c.2116C>T (p.Arg706Ter)	rs759225610
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)	rs199422294

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