List of variants in gene SPG11 reported as uncertain significance by UM ALS/MND Lab, University Of Malta

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)	rs76116949	0.01253
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)	rs79708848	0.01235
NM_025137.4(SPG11):c.3037A>G (p.Lys1013Glu)	rs111347025	0.00958
NM_025137.4(SPG11):c.2656T>C (p.Tyr886His)	rs139687202	0.00369
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)	rs141818132	0.00175
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg)	rs200573434	0.00145
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	rs201689565	0.00011
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys)	rs201082396	0.00005
NM_025137.4(SPG11):c.1618C>T (p.Arg540Cys)	rs758046989	0.00001

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