List of variants in gene SPG11 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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.5381T>C (p.Leu1794Pro)	rs201689565	0.00011
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)	rs756134516	0.00005
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	rs141848292	0.00002
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs)	rs1220982145
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs)	rs312262735
NM_025137.4(SPG11):c.4083C>A (p.Tyr1361Ter)	rs764880157
NM_025137.4(SPG11):c.4396C>T (p.Gln1466Ter)	rs2083030924
NM_025137.4(SPG11):c.6215_6219dup (p.Phe2074fs)	rs2082450607
NM_025137.4(SPG11):c.777_781del (p.Ser261fs)	rs2084965242

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