List of variants in gene SPG11 reported by Genetic Services Laboratory, University of Chicago

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)	rs3759871	0.48431
NM_025137.4(SPG11):c.3420G>A (p.Leu1140=)	rs36014111	0.03348
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)	rs3759873	0.01282
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)	rs35932349	0.01279
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)	rs3759874	0.01269
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)	rs150761878	0.00781
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)	rs76389165	0.00694
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)	rs140824939	0.00270
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)	rs182080501	0.00014
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)	rs201689565	0.00011
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)	rs141848292	0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln)	rs768303307	0.00002
NM_025137.4(SPG11):c.7152-45A>G	rs1391440047

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