ClinVar Miner

List of variants in gene SPAST reported as likely pathogenic by CeGaT Praxis fuer Humangenetik Tuebingen

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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_014946.3(SPAST):c.1066G>A (p.Glu356Lys) rs1057519181
NM_014946.3(SPAST):c.1209_1212delCTTT (p.Phe403Leufs) rs1553317029
NM_014946.3(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.3(SPAST):c.1536+1G>C rs1553319095
NM_014946.3(SPAST):c.1772_1775delAAAT (p.Ile592Asnfs) rs1553321232
NM_014946.3(SPAST):c.1785C>A (p.Ser595Arg) rs145206063

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