List of variants in gene SPG11 reported as pathogenic by Athena Diagnostics Inc

Minimum submission review status:		Collection method:
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: 17

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.1348dup (p.Ile450fs)	rs312262725	0.00004
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	rs118203963	0.00003
NM_025137.4(SPG11):c.2316+1G>A	rs312262740	0.00001
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)	rs957519261	0.00001
NM_025137.4(SPG11):c.4109del (p.Asp1370fs)	rs1259332141	0.00001
NM_025137.4(SPG11):c.1590del (p.His531fs)
NM_025137.4(SPG11):c.202_203dup (p.Leu68fs)	rs773773579
NM_025137.4(SPG11):c.2163dup (p.Ile722fs)	rs312262738
NM_025137.4(SPG11):c.2471del (p.Phe824fs)	rs764805516
NM_025137.4(SPG11):c.2716del (p.Gln906fs)	rs312262747
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)	rs747220413
NM_025137.4(SPG11):c.3320_3321del (p.Cys1107fs)	rs1366914385
NM_025137.4(SPG11):c.3868dup (p.Tyr1290fs)	rs1555451491
NM_025137.4(SPG11):c.4830dup (p.Gln1611fs)
NM_025137.4(SPG11):c.5093T>A (p.Leu1698Ter)	rs1462607878
NM_025137.4(SPG11):c.6091C>T (p.Arg2031Ter)	rs147713329
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)	rs312262784

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