ClinVar Miner

List of variants in gene SPAST reported as pathogenic by GeneDx

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Gene type:
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Total variants: 15
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HGVS dbSNP
NM_014946.3(SPAST):c.1056del (p.Ala353fs) rs1553315336
NM_014946.3(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.3(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.3(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.3(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.3(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.3(SPAST):c.1413+1G>T rs1553318276
NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.3(SPAST):c.1729-1G>A rs1064793976
NM_014946.3(SPAST):c.415+1G>T rs1057521135
NM_014946.3(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.3(SPAST):c.571del (p.Arg191fs) rs1057517974
NM_014946.3(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.3(SPAST):c.841G>T (p.Gly281Ter) rs1553314951
NM_014946.3(SPAST):c.871-1G>C rs1057524526

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