List of variants reported as uncertain significance for hereditary spastic paraplegia 52

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001128126.3(AP4S1):c.29A>G (p.Lys10Arg)	rs147135554	0.00095
NM_001128126.3(AP4S1):c.83G>A (p.Arg28His)	rs201972703	0.00009
NM_001128126.3(AP4S1):c.306+4281A>G	rs1228214819	0.00001
NM_001128126.3(AP4S1):c.152A>G (p.Glu51Gly)
NM_001128126.3(AP4S1):c.44G>A (p.Arg15Gln)
NM_001254729.1(AP4S1):c.226_294del

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