ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 50 by Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004722.4(AP4M1):c.1117C>T (p.Gln373Ter)	rs1562912305	0.00001
NM_004722.4(AP4M1):c.1321C>T (p.Arg441Ter)	rs886041126

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