ClinVar Miner

List of variants reported as pathogenic for Hereditary spastic paraplegia 39 by Paris Brain Institute, Inserm - ICM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001166114.2(PNPLA6):c.1456C>A (p.Pro486Thr)	rs1055816694	0.00001
NM_001166114.2(PNPLA6):c.1362+1G>C	rs2146060616
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)	rs606231167

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