ClinVar Miner

List of variants studied for GRN-related frontotemporal lobar degeneration with Tdp43 inclusions by Molecular Genetics, Royal Melbourne Hospital

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
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001377265.1(MAPT):c.1351+5G>C	rs1211967572	0.00001
NM_001377265.1(MAPT):c.1568G>A (p.Arg523Gln)
NM_001377265.1(MAPT):c.2091+16C>T	rs63751011
NM_002087.4(GRN):c.708+6_708+9del	rs778599933
NM_002087.4(GRN):c.898C>T (p.Gln300Ter)	rs1555611253

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