ClinVar Miner

List of variants in gene SFTPC reported as uncertain significance 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)	rs34957318	0.00444
NM_001317778.2(SFTPC):c.*193C>A	rs886062816	0.00012
NM_001317778.2(SFTPC):c.505G>A (p.Gly169Arg)	rs766093799	0.00002
NM_001317778.2(SFTPC):c.*186G>A	rs892113541	0.00001
NM_001317778.2(SFTPC):c.-26GAG[1]	rs773257848
NM_001317778.2(SFTPC):c.237G>A (p.Gln79=)	rs957889901
NM_001317778.2(SFTPC):c.436-15G>A	rs374909143
NM_001317778.2(SFTPC):c.445G>T (p.Ala149Ser)	rs202145169

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