List of variants in gene SPG11 reported by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	rs111347025	0.00958
NM_025137.4(SPG11):c.733_734del (p.Met245fs)	rs312262720	0.00005
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)	rs312262728	0.00001
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs)	rs312262752
NM_025137.4(SPG11):c.315del (p.Ala106fs)	rs1595940106
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)	rs312262770
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)	rs312262784
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)	rs1595817021
NM_025137.4(SPG11):c.782C>A (p.Ser261Ter)	rs765477482

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