ClinVar Miner

List of variants reported as likely pathogenic for Hereditary spastic paraplegia

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Total variants: 7
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HGVS dbSNP
NM_001164731.2(REEP1):c.25-18176G>C rs1266102026
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_004984.4(KIF5A):c.833C>T (p.Pro278Leu) rs1555177824
NM_004984.4(KIF5A):c.868G>C (p.Asp290His) rs1555177831
NM_007175.8(ERLIN2):c.899A>T (p.Asp300Val) rs763958615
NM_014363.5:c.[1640C>T;1634G>T]
NM_015214.2(DDHD2):c.1249_1891del

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