ClinVar Miner

List of variants in gene SPAST reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 6
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HGVS dbSNP
NM_014946.3(SPAST):c.1039C>T (p.Gln347Ter) rs1553315329
NM_014946.3(SPAST):c.1117del (p.Ala373fs) rs1057518880
NM_014946.3(SPAST):c.1276C>T (p.Leu426Phe) rs1060502227
NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.3(SPAST):c.1670C>G (p.Ala557Gly) rs1057518873
NM_014946.3(SPAST):c.870+1G>A rs1553314978

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