ClinVar Miner

List of variants reported as pathogenic for pneumonitis by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (10):

Combined pulmonary fibrosis-emphysema syndrome
Dyskeratosis congenita, autosomal dominant 2; Idiopathic Pulmonary Fibrosis
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
Ichthyosis prematurity syndrome
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 and/or bone marrow failure, Telomere-related, 3
Pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)	rs373740199	0.00009
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His)	rs201540674	0.00008
NM_001283009.2(RTEL1):c.2920C>T (p.Arg974Ter)	rs398123017	0.00003
NM_001283009.2(RTEL1):c.2892T>G (p.Phe964Leu)	rs1470145133
NM_005094.4(SLC27A4):c.1065del (p.Arg356fs)	rs777972512
NM_005094.4(SLC27A4):c.1A>G (p.Met1Val)

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