ClinVar Miner

List of variants reported as uncertain significance for Spastic ataxia

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1735A>C (p.Asn579His) rs144594804 0.00031
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_000081.4(LYST):c.4336C>T (p.Arg1446Trp) rs200276917 0.00010
NM_006005.3(WFS1):c.1969A>G (p.Met657Val) rs71532861 0.00010
NM_014363.6(SACS):c.2927G>A (p.Arg976His) rs751415868 0.00004
NM_015046.7(SETX):c.1468G>A (p.Val490Ile) rs763545230 0.00004
NM_001142633.3(PIK3R5):c.1364G>A (p.Arg455Gln) rs749281989 0.00003
NM_006005.3(WFS1):c.401C>T (p.Ala134Val) rs746010848 0.00002
NM_000384.3(APOB):c.3400A>G (p.Arg1134Gly) rs769299791 0.00001
NM_001330260.2(SCN8A):c.1790G>A (p.Arg597His) rs755358223 0.00001
NM_002109.6(HARS1):c.202C>T (p.Arg68Trp) rs757279674 0.00001
NM_025137.4(SPG11):c.304C>T (p.Pro102Ser) rs758322703 0.00001
NM_000081.4(LYST):c.5590G>T (p.Val1864Leu) rs139694536
NM_000263.4(NAGLU):c.1376C>T (p.Ala459Val) rs2143109756
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln) rs1568447650
NM_001161352.2(KCNMA1):c.1361C>A (p.Ala454Asp) rs1057518815
NM_003119.4(SPG7):c.818G>A (p.Arg273His) rs770339981
NM_014324.6(AMACR):c.541G>T (p.Asp181Tyr) rs1447617401
NM_014363.6(SACS):c.1417A>G (p.Asn473Asp) rs2137722315

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