ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 50 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_004722.4(AP4M1):c.809T>C (p.Leu270Pro) rs895548740 0.00001
NM_004722.4(AP4M1):c.547C>T (p.Gln183Ter) rs1796279189
NM_004722.4(AP4M1):c.952C>T (p.Arg318Ter) rs730882249

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