ClinVar Miner

List of variants in gene SPAST reported as pathogenic by GeneDx

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Gene type:
ClinVar version:
Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1056del (p.Ala353fs) rs1553315336
NM_014946.4(SPAST):c.1164G>T (p.Lys388Asn) rs1553316838
NM_014946.4(SPAST):c.1168A>G (p.Met390Val) rs797044850
NM_014946.4(SPAST):c.1215_1219del (p.Asn405fs) rs1553317032
NM_014946.4(SPAST):c.1220G>A (p.Ser407Asn) rs1573142616
NM_014946.4(SPAST):c.1225G>A (p.Ala409Thr) rs1064793273
NM_014946.4(SPAST):c.1250G>T (p.Gly417Val) rs1553318161
NM_014946.4(SPAST):c.1276C>G (p.Leu426Val) rs1060502227
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1322-1G>A rs1365753930
NM_014946.4(SPAST):c.1331A>G (p.Asp444Gly) rs886041597
NM_014946.4(SPAST):c.1413+1G>T rs1553318276
NM_014946.4(SPAST):c.1454_1463del (p.Ala485fs) rs1573157000
NM_014946.4(SPAST):c.1456A>G (p.Thr486Ala) rs1553318320
NM_014946.4(SPAST):c.1460A>G (p.Asn487Ser) rs2148754345
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1577_1580del (p.Gly526fs) rs1553319298
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1728+1G>A rs587777754
NM_014946.4(SPAST):c.1729-1G>A rs1064793976
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter) rs778023258
NM_014946.4(SPAST):c.1775T>A (p.Ile592Lys) rs1553321237
NM_014946.4(SPAST):c.415+1G>T rs1057521135
NM_014946.4(SPAST):c.486dup (p.Ile163fs) rs2148708928
NM_014946.4(SPAST):c.496G>T (p.Gly166Ter)
NM_014946.4(SPAST):c.508C>T (p.Gln170Ter) rs886039695
NM_014946.4(SPAST):c.571del (p.Arg191fs) rs1057517974
NM_014946.4(SPAST):c.734C>G (p.Ser245Ter) rs1553314896
NM_014946.4(SPAST):c.841G>T (p.Gly281Ter) rs1553314951
NM_014946.4(SPAST):c.867_868del (p.His289fs) rs1558323659
NM_014946.4(SPAST):c.871-1G>C rs1057524526

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