ClinVar Miner

List of variants in gene SETX reported as likely pathogenic for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions

Included ClinVar conditions (14):

Alzheimer disease 3; Frontotemporal dementia
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3
Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3
Frontotemporal dementia
Frontotemporal dementia; Memory impairment; Mental deterioration
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Progressive supranuclear ophthalmoplegia
Frontotemporal dementia; Parkinson disease, late-onset; Progressive supranuclear palsy-parkinsonism syndrome; Pick disease; Supranuclear palsy, progressive, 1
Frontotemporal dementia; Parkinsonian disorder; Rigidity; Brain atrophy
Frontotemporal dementia; Pick disease; Progressive supranuclear ophthalmoplegia
Frontotemporal dementia; Primary degenerative dementia of the Alzheimer type, presenile onset
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions
GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11
Primary progressive non fluent aphasia; Corticobasal syndrome
Semantic dementia

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_015046.7(SETX):c.638C>T (p.Ser213Phe)	rs1254442456	0.00038
NM_015046.7(SETX):c.4672A>G (p.Thr1558Ala)	rs764920626	0.00002
NM_015046.7(SETX):c.1114A>C (p.Thr372Pro)	rs145145045	0.00001

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