ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spastic paraplegia 50 by Institute of Human Genetics, University of Goettingen

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004722.4(AP4M1):c.142del (p.Val48fs)	rs764326593	0.00001
NM_004722.4(AP4M1):c.498del (p.Ser167fs)	rs766513025

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