ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia 4, autosomal dominant

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Total variants: 22
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HGVS dbSNP
NC_000002.12:g.(?_32114618)_(32116232_?)dup
NM_014946.3(SPAST):c.1174-1G>A
NM_014946.3(SPAST):c.1196C>T (p.Ser399Leu) rs1553317025
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.1398_1413+1dup
NM_014946.3(SPAST):c.1413+3_1413+6delAAGT rs570685843
NM_014946.3(SPAST):c.1413+5G>C rs1553318282
NM_014946.3(SPAST):c.1477G>C (p.Asp493His) rs1060499939
NM_014946.3(SPAST):c.1477G>T (p.Asp493Tyr) rs1060499939
NM_014946.3(SPAST):c.1494-1G>C rs1315245986
NM_014946.3(SPAST):c.1616+1G>C rs1553319327
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1666G>A (p.Ala556Thr)
NM_014946.3(SPAST):c.1675G>C (p.Gly559Arg) rs878854992
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_014946.3(SPAST):c.1729-2A>G
NM_014946.3(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.3(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.3(SPAST):c.631G>A (p.Val211Ile)
NM_014946.3(SPAST):c.870G>A (p.Lys290=) rs1421791559
NM_199436.1(SPAST):c.1015C>T (p.Leu339Phe) rs1060499670

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