ClinVar Miner

List of variants in gene SPAST reported by Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München

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Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1169T>A (p.Met390Lys) rs1131691977
NM_014946.4(SPAST):c.1360G>A (p.Glu454Lys) rs1553318230
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.4(SPAST):c.1484C>T (p.Ala495Val) rs1553318347
NM_014946.4(SPAST):c.1493+2_1493+5del rs1558337180
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518

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