ClinVar Miner

List of variants reported as pathogenic for cerebral degeneration by OMIM

Included ClinVar conditions (8):

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
Corticobasal syndrome
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; Pick disease; Progressive supranuclear ophthalmoplegia
Pick disease
Primary progressive non fluent aphasia; Corticobasal syndrome

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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: 5

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HGVS	dbSNP	gnomAD frequency
NM_001377265.1(MAPT):c.2341G>A (p.Gly781Arg)	rs63750512	0.00001
NM_000021.4(PSEN1):c.548G>T (p.Gly183Val)	rs63751068
NM_001377265.1(MAPT):c.1946A>C (p.Lys649Thr)	rs63750129
NM_001377265.1(MAPT):c.2135C>T (p.Ser712Phe)	rs63750635
NM_001377265.1(MAPT):c.2282A>T (p.Lys761Ile)	rs63751264

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