ClinVar Miner

List of variants reported as affects for Hereditary spastic paraplegia

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_013964.5(NRG1):c.332T>C (p.Met111Thr) rs777137810 0.00003
NM_000215.4(JAK3):c.970G>A (p.Asp324Asn) rs1446786243 0.00001
NM_004535.3(MYT1):c.2126C>T (p.Ala709Val) rs1983951301
NM_005628.3(SLC1A5):c.829G>A (p.Ala277Thr) rs765008475
NM_014265.6(ADAM28):c.1709C>G (p.Ser570Trp) rs201643797
NM_015291.4(DNAJC16):c.718C>T (p.Gln240Ter) rs746908478
NM_178014.4(TUBB):c.[58-574C>A;58-593_58-575del]

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