ClinVar Miner

List of variants in gene PSEN1 studied for Alzheimer disease, familial, 3, with spastic paraparesis and apraxia

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.254T>C (p.Leu85Pro) rs63750599
NM_000021.4(PSEN1):c.796G>A (p.Gly266Ser) rs121917807

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