ClinVar Miner

List of variants studied for Alzheimer disease 3 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.1315A>G (p.Ile439Val) rs63750249 0.00001
NM_000021.4(PSEN1):c.1306C>G (p.Pro436Ala) rs63749925
NM_000021.4(PSEN1):c.722T>C (p.Leu241Pro)
NM_000021.4(PSEN1):c.737C>A (p.Ala246Glu) rs63750526
NM_000021.4(PSEN1):c.869-1G>A rs63750219

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