ClinVar Miner

List of variants in gene SPAST reported as uncertain significance by Athena Diagnostics Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014946.4(SPAST):c.832G>A (p.Val278Met) rs369908571 0.00006
NM_014946.4(SPAST):c.1808C>T (p.Ala603Val) rs368801051 0.00004
NM_014946.4(SPAST):c.1783A>G (p.Ser595Gly) rs1553321245 0.00001
NM_014946.4(SPAST):c.1004+3_1004+6del rs1553315234
NM_014946.4(SPAST):c.1049C>T (p.Ala350Val) rs1060502231
NM_014946.4(SPAST):c.1061T>G (p.Leu354Trp) rs1553315342
NM_014946.4(SPAST):c.1096G>A (p.Glu366Lys) rs1553315356
NM_014946.4(SPAST):c.1105A>C (p.Thr369Pro) rs1553316802
NM_014946.4(SPAST):c.1116A>C (p.Arg372Ser) rs1425976342
NM_014946.4(SPAST):c.1120C>T (p.Pro374Ser) rs1553316810
NM_014946.4(SPAST):c.1174G>C (p.Ala392Pro) rs1558331867
NM_014946.4(SPAST):c.1223C>T (p.Ala408Val) rs1553317043
NM_014946.4(SPAST):c.1247T>C (p.Val416Ala) rs1558336489
NM_014946.4(SPAST):c.1397T>C (p.Leu466Pro) rs1573156486
NM_014946.4(SPAST):c.1399A>G (p.Ile467Val) rs1573156509
NM_014946.4(SPAST):c.1409A>C (p.Asp470Ala) rs121908516
NM_014946.4(SPAST):c.1445T>C (p.Val482Ala) rs1417318347
NM_014946.4(SPAST):c.1450G>C (p.Gly484Arg) rs1553318317
NM_014946.4(SPAST):c.1494-5T>G rs1553319072
NM_014946.4(SPAST):c.1526C>T (p.Pro509Leu) rs1443578852
NM_014946.4(SPAST):c.1553T>C (p.Leu518Pro) rs1553319290
NM_014946.4(SPAST):c.1574A>G (p.Gln525Arg) rs2148759426
NM_014946.4(SPAST):c.1610T>G (p.Leu537Arg)
NM_014946.4(SPAST):c.1640G>A (p.Ser547Asn)
NM_014946.4(SPAST):c.1655T>C (p.Leu552Ser)
NM_014946.4(SPAST):c.1728G>A (p.Glu576=) rs1060502225
NM_014946.4(SPAST):c.1728G>T (p.Glu576Asp) rs1060502225
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg) rs145206063
NM_014946.4(SPAST):c.244T>C (p.Phe82Leu) rs1558605895
NM_014946.4(SPAST):c.301TCGGCC[1] (p.101SA[1])
NM_014946.4(SPAST):c.37T>A (p.Ser13Thr) rs781222498
NM_014946.4(SPAST):c.385A>G (p.Ile129Val) rs1362108129
NM_014946.4(SPAST):c.73C>T (p.Pro25Ser)
NM_014946.4(SPAST):c.845C>G (p.Ser282Cys)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.