ClinVar Miner

List of variants studied for Spastic paraplegia-severe developmental delay-epilepsy syndrome by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_020771.4(HACE1):c.1990C>T (p.Arg664Ter) rs761703540 0.00001
NM_020771.4(HACE1):c.281A>G (p.Gln94Arg)
NM_020771.4(HACE1):c.535-686A>G

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