List of variants in gene SPG11 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	rs141848292	0.00002
NM_025137.4(SPG11):c.1492C>T (p.Gln498Ter)	rs312262728	0.00001
NM_025137.4(SPG11):c.255G>A (p.Trp85Ter)	rs957519261	0.00001
GRCh37/hg19 15q21.1(chr15:44912388-44925835)x1
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs)	rs1220982145
NM_025137.4(SPG11):c.227del (p.Gly76fs)
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.6091C>T (p.Arg2031Ter)	rs147713329
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)	rs312262786
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter)	rs1595817021
NM_025137.4(SPG11):c.7155T>A (p.Tyr2385Ter)	rs778305085
NM_025137.4(SPG11):c.869+1G>T	rs312262721

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