ClinVar Miner

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

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NC_000002.11:g.(?_32339687)_(32341301_?)dup
NC_000002.11:g.(?_32339687)_(32372347_?)dup
NC_000002.12:g.(?_32114628)_(32116222_?)dup
NM_014946.4(SPAST):c.1004+3_1004+6del rs1553315234
NM_014946.4(SPAST):c.1112T>C (p.Leu371Pro)
NM_014946.4(SPAST):c.1132C>G (p.Leu378Val) rs2148744957
NM_014946.4(SPAST):c.1139T>C (p.Leu380Pro) rs1553316819
NM_014946.4(SPAST):c.1159G>A (p.Gly387Arg) rs1679217117
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>A (p.Gly417Glu) rs1553318161
NM_014946.4(SPAST):c.1260G>T (p.Glu420Asp) rs1679543195
NM_014946.4(SPAST):c.1322A>T (p.Asp441Val) rs121908512
NM_014946.4(SPAST):c.1324G>A (p.Glu442Lys) rs1553318214
NM_014946.4(SPAST):c.1325A>T (p.Glu442Val) rs1553318215
NM_014946.4(SPAST):c.1372A>C (p.Ser458Arg)
NM_014946.4(SPAST):c.1379G>A (p.Arg460His) rs1553318241
NM_014946.4(SPAST):c.1391A>C (p.Glu464Ala)
NM_014946.4(SPAST):c.1398_1413+1dup rs1558336927
NM_014946.4(SPAST):c.1413+3_1413+6del rs570685843
NM_014946.4(SPAST):c.1413+5G>C rs1553318282
NM_014946.4(SPAST):c.1457C>T (p.Thr486Ile) rs1558337122
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly) rs1553318350
NM_014946.4(SPAST):c.1535_1536+1del rs1558339948
NM_014946.4(SPAST):c.1634C>T (p.Ser545Leu)
NM_014946.4(SPAST):c.1637G>T (p.Gly546Val) rs786204057
NM_014946.4(SPAST):c.1646T>A (p.Leu549Gln)
NM_014946.4(SPAST):c.1646T>C (p.Leu549Pro) rs1553319534
NM_014946.4(SPAST):c.1649C>T (p.Thr550Ile) rs1553319537
NM_014946.4(SPAST):c.1724_1725insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNNNAAAAAAAAAAAAAAAAAAGAATATGTCTGCCAG (p.Ser575fs) rs2148762802
NM_014946.4(SPAST):c.1730T>G (p.Met577Arg) rs1553321196
NM_014946.4(SPAST):c.1784G>A (p.Ser595Asn) rs2148769328
NM_014946.4(SPAST):c.1785C>G (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.1844C>T (p.Thr615Ile)
NM_014946.4(SPAST):c.871-1G>C rs1057524526

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