ClinVar Miner

List of variants in gene SPAST reported as pathogenic by OMIM

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Gene type:
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Total variants: 19
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HGVS dbSNP
NG_008730.1:g.75057_79101dup
NM_014946.3(SPAST):c.-112_415+1779del
NM_014946.3(SPAST):c.1031T>A (p.Ile344Lys) rs121908513
NM_014946.3(SPAST):c.1085C>G (p.Ser362Cys) rs121908509
NM_014946.3(SPAST):c.1157A>G (p.Asn386Ser) rs121908514
NM_014946.3(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.3(SPAST):c.1245+4A>G rs587777755
NM_014946.3(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.3(SPAST):c.1335C>A (p.Ser445Arg) rs121908519
NM_014946.3(SPAST):c.1343G>A (p.Cys448Tyr) rs121908510
NM_014946.3(SPAST):c.1395del (p.Leu466Terfs) rs587777751
NM_014946.3(SPAST):c.1409A>T (p.Asp470Val) rs121908516
NM_014946.3(SPAST):c.1413+2dup rs587777756
NM_014946.3(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.3(SPAST):c.1684C>G (p.Arg562Gly) rs121908518
NM_014946.3(SPAST):c.1688-2A>G rs587777752
NM_014946.3(SPAST):c.1728+1G>C rs587777754
NM_014946.3(SPAST):c.453dup (p.Gly152Argfs) rs587777753
SPAST, LYS229TER

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