ClinVar Miner

List of variants reported as benign for hereditary spastic paraplegia 11 by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (5):

Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11
Amyotrophic lateral sclerosis type 5; Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11
Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X
Hereditary spastic paraplegia 11; Charcot-Marie-Tooth disease axonal type 2X; Juvenile amyotrophic lateral sclerosis

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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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.3037A>G (p.Lys1013Glu)	rs111347025	0.00958
NM_025137.4(SPG11):c.2445-20del	rs374899647

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