List of variants in gene SPG11 reported as pathogenic for amyotrophic lateral sclerosis type 5

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 23

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.6598A>T (p.Lys2200Ter)	rs141263564	0.00006
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter)	rs140385286	0.00005
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)	rs312262725	0.00004
NM_025137.4(SPG11):c.2834+1G>T	rs312262749	0.00003
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	rs141848292	0.00002
NM_025137.4(SPG11):c.4888G>T (p.Glu1630Ter)	rs368276916	0.00001
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	rs200793464	0.00001
NM_025137.4(SPG11):c.5986dup (p.Cys1996fs)	rs312262775	0.00001
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	rs267607084
NM_025137.4(SPG11):c.1432C>T (p.Gln478Ter)	rs1226110412
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)	rs312262739
NM_025137.4(SPG11):c.2250del (p.Phe750fs)	rs2083790483
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	rs312262709
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)	rs747220413
NM_025137.4(SPG11):c.3074_3077del (p.Lys1025fs)	rs746971952
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	rs312262752
NM_025137.4(SPG11):c.4462_4463del (p.Val1488fs)	rs587777921
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	rs147713329
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs)	rs312262781
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)	rs312262782
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)	rs312262788
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)	rs778305085

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