ClinVar Miner

List of variants in gene SPAST reported as pathogenic for Hereditary spastic paraplegia

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.1245+1G>A rs875989878 0.00001
NM_014946.4(SPAST):c.1005-1G>C rs1553315318
NM_014946.4(SPAST):c.1133T>A (p.Leu378Gln) rs1553316816
NM_014946.4(SPAST):c.1157A>G (p.Asn386Ser) rs121908514
NM_014946.4(SPAST):c.1208_1212del (p.Thr402_Phe403insTer) rs1553317029
NM_014946.4(SPAST):c.1215_1218del (p.Asn405fs) rs2148746358
NM_014946.4(SPAST):c.1216A>G (p.Ile406Val) rs587777757
NM_014946.4(SPAST):c.1291C>T (p.Arg431Ter) rs786204126
NM_014946.4(SPAST):c.1321+1G>T rs2148753724
NM_014946.4(SPAST):c.1361dup (p.His455fs) rs1573156283
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014946.4(SPAST):c.1382del (p.Leu461fs) rs2148754032
NM_014946.4(SPAST):c.1390G>T (p.Glu464Ter) rs1679556566
NM_014946.4(SPAST):c.1496G>A (p.Arg499His) rs878854991
NM_014946.4(SPAST):c.1507C>T (p.Arg503Trp) rs864622162
NM_014946.4(SPAST):c.1536G>T (p.Glu512Asp) rs1553319093
NM_014946.4(SPAST):c.1606C>T (p.Gln536Ter) rs2148759473
NM_014946.4(SPAST):c.1684C>T (p.Arg562Ter) rs121908518
NM_014946.4(SPAST):c.1741C>T (p.Arg581Ter) rs778023258
NM_014946.4(SPAST):c.1840del (p.Thr614fs) rs2148769396
NM_014946.4(SPAST):c.286del (p.Ala96fs) rs1573028017
NM_014946.4(SPAST):c.390_391del (p.Leu131fs) rs2148685848
NM_014946.4(SPAST):c.391_392insGGT (p.Ala130_Leu131insArg) rs2148685859
NM_014946.4(SPAST):c.562del (p.Ala188fs) rs1553400002
NM_014946.4(SPAST):c.746C>G (p.Ser249Ter) rs1553314902
NM_014946.4(SPAST):c.843_846dup (p.Gly283fs) rs2148733110

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