ClinVar Miner

List of variants in gene SPAST reported as likely pathogenic by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1040A>C (p.Gln347Pro) rs1678825469
NM_014946.4(SPAST):c.1111C>G (p.Leu371Val) rs1060499670
NM_014946.4(SPAST):c.1173+1G>A rs1060502226
NM_014946.4(SPAST):c.1173G>A (p.Leu391=) rs1679218212
NM_014946.4(SPAST):c.1321G>T (p.Asp441Tyr) rs1553318188
NM_014946.4(SPAST):c.1411G>A (p.Gly471Ser) rs1679558360
NM_014946.4(SPAST):c.1537-1G>T rs1553319280
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063

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