ClinVar Miner

List of variants reported as association for pneumonitis

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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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: 4

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HGVS	dbSNP	gnomAD frequency
NM_014883.4(FAM13A):c.843+16335C>A	rs2609255	0.73777
NM_198253.3(TERT):c.1574-3777G>T	rs2736100	0.52208
NM_004415.4(DSP):c.726+219T>G	rs2076295	0.45776
NM_019009.4(TOLLIP):c.184-1067G>C	rs111521887	0.12301

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