List of variants in gene SPG11 reported as uncertain significance by Athena Diagnostics Inc

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val)	rs114945876	0.00165
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His)	rs201918221	0.00086
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu)	rs373796566	0.00029
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys)	rs374057859	0.00027
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)	rs145132275	0.00026
NM_025137.4(SPG11):c.3988C>G (p.Gln1330Glu)	rs375363608	0.00025
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val)	rs200220848	0.00022
NM_025137.4(SPG11):c.28G>A (p.Ala10Thr)	rs372658867	0.00021
NM_025137.4(SPG11):c.2318T>G (p.Val773Gly)	rs182080501	0.00014
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp)	rs139498464	0.00011
NM_025137.4(SPG11):c.3558C>G (p.Asp1186Glu)	rs201902382	0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys)	rs138103656	0.00011
NM_025137.4(SPG11):c.6950G>A (p.Gly2317Asp)	rs79186522	0.00009
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr)	rs201842512	0.00006
NM_025137.4(SPG11):c.937G>A (p.Val313Ile)	rs533492925	0.00006
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)	rs752401008	0.00005
NM_025137.4(SPG11):c.3551G>T (p.Ser1184Ile)	rs766403944	0.00003
NM_025137.4(SPG11):c.6028G>T (p.Asp2010Tyr)	rs1060501171	0.00003
NM_025137.4(SPG11):c.2306G>A (p.Arg769His)	rs368151745	0.00002
NM_025137.4(SPG11):c.2561C>T (p.Ala854Val)	rs758923470	0.00002
NM_025137.4(SPG11):c.6719G>A (p.Arg2240His)	rs766384717	0.00002
NM_025137.4(SPG11):c.7013C>T (p.Ala2338Val)	rs368902742	0.00002
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly)	rs763060505	0.00001
NM_025137.4(SPG11):c.3884A>G (p.Glu1295Gly)	rs747199399	0.00001
NM_025137.4(SPG11):c.4107T>A (p.Asn1369Lys)	rs200700774	0.00001
NM_025137.4(SPG11):c.4757C>G (p.Ala1586Gly)	rs1332100392	0.00001
NM_025137.3(SPG11):c.7151+4_7151+7dup
NM_025137.4(SPG11):c.1121C>A (p.Ser374Tyr)	rs144403346
NM_025137.4(SPG11):c.5440A>T (p.Asn1814Tyr)	rs1567138592
NM_025137.4(SPG11):c.5767A>T (p.Ser1923Cys)	rs1555448836
NM_025137.4(SPG11):c.6343+5G>T	rs756302161
NM_025137.4(SPG11):c.833A>T (p.Asn278Ile)	rs75309308

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