ClinVar Miner

List of variants studied for Alzheimer disease 3 by Human Genome Lab, NIMHANS, National Institute of Mental Health and Neuro Sciences

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000021.4(PSEN1):c.1168A>G (p.Ser390Gly)
NM_000021.4(PSEN1):c.1184A>G (p.Lys395Arg)
NM_000021.4(PSEN1):c.336G>T (p.Gln112His)
NM_000021.4(PSEN1):c.415A>G (p.Met139Val) rs63751037
NM_000021.4(PSEN1):c.436A>G (p.Met146Val) rs63750306

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