ClinVar Miner

List of variants in gene SPAST reported by OMIM

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_014946.4(SPAST):c.134C>A (p.Pro45Gln) rs121908517 0.00063
NM_014946.4(SPAST):c.1031T>A (p.Ile344Lys) rs121908513
NM_014946.4(SPAST):c.1085C>G (p.Ser362Cys) rs121908509
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser) rs121908514
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1245+4A>G rs587777755
NM_014946.4(SPAST):c.1246-2896_1493+523dup
NM_014946.4(SPAST):c.1322A>G (p.Asp441Gly) rs121908512
NM_014946.4(SPAST):c.1335C>A (p.Ser445Arg) rs121908519
NM_014946.4(SPAST):c.1343G>A (p.Cys448Tyr) rs121908510
NM_014946.4(SPAST):c.1395del (p.Phe465_Leu466insTer) rs587777751
NM_014946.4(SPAST):c.1409A>T (p.Asp470Val) rs121908516
NM_014946.4(SPAST):c.1413+2dup rs587777756
NM_014946.4(SPAST):c.1495C>T (p.Arg499Cys) rs121908511
NM_014946.4(SPAST):c.1684C>G (p.Arg562Gly) rs121908518
NM_014946.4(SPAST):c.1688-2A>G rs587777752
NM_014946.4(SPAST):c.1728+1G>C rs587777754
NM_014946.4(SPAST):c.453dup (p.Gly152fs) rs587777753
NM_014946.4(SPAST):c.748A>T (p.Lys250Ter) rs1318536893

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