ClinVar Miner

List of variants studied for Hereditary spastic paraplegia 28 by Paris Brain Institute, Inserm - ICM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001160148.2(DDHD1):c.510G>A (p.Trp170Ter) rs1891509468 0.00001
NM_001160148.2(DDHD1):c.246del (p.Cys83fs) rs2139938826
NM_001160148.2(DDHD1):c.395dup (p.Gly133fs) rs748385953

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