ClinVar Miner

List of variants in gene SPAST reported as likely pathogenic by GeneDx

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Gene type:
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Total variants: 14
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NM_014946.3(SPAST):c.1112T>G (p.Leu371Arg) rs1553316806
NM_014946.3(SPAST):c.1169T>C (p.Met390Thr) rs1131691977
NM_014946.3(SPAST):c.1170G>A (p.Met390Ile) rs1131691971
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
NM_014946.3(SPAST):c.1303C>T (p.Pro435Ser) rs1064796279
NM_014946.3(SPAST):c.1334G>C (p.Ser445Thr) rs1131691838
NM_014946.3(SPAST):c.1676G>A (p.Gly559Asp) rs864622179
NM_014946.3(SPAST):c.1714A>G (p.Met572Val) rs1131691684
NM_014946.3(SPAST):c.1762T>C (p.Ser588Pro) rs1131691972
NM_014946.3(SPAST):c.1815dup (p.Arg606fs) rs1553321261
NM_014946.3(SPAST):c.334G>T (p.Glu112Ter) rs1553394603
NM_014946.3(SPAST):c.911dup (p.Thr305fs) rs1553315188
NM_199436.1(SPAST):c.1380_1382TGA[3] (p.Asp461dup) rs1553318338

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