List of variants in gene SPG11 reported as pathogenic by OMIM

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)	rs118203963	0.00003
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	rs141848292	0.00002
NM_025137.4(SPG11):c.5974C>T (p.Arg1992Ter)	rs200793464	0.00001
NM_025137.4(SPG11):c.7152-1G>C	rs200079802	0.00001
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter)	rs267607084
NM_025137.4(SPG11):c.2198T>G (p.Leu733Ter)	rs312262739
NM_025137.4(SPG11):c.2472_2473insT (p.Lys825Ter)	rs312262744
NM_025137.4(SPG11):c.267G>A (p.Trp89Ter)	rs312262709
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	rs312262752
NM_025137.4(SPG11):c.442+1G>C	rs312262715
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)	rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)	rs863225440
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)	rs863225439
NM_025137.4(SPG11):c.7029dup (p.Val2344fs)	rs312262788

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