List of variants in gene SPG11 reported as likely pathogenic for anterior horn disorder

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_025137.4(SPG11):c.3687_3688insC (p.Ile1230fs)	rs1459810136	0.00001
NM_025137.4(SPG11):c.1966_1967del (p.Lys656fs)	rs1303294230
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)	rs1555451521
NM_025137.4(SPG11):c.5199del (p.Lys1733fs)	rs779268551
NM_025137.4(SPG11):c.5866_5866+4del	rs771346977
NM_025137.4(SPG11):c.6754+2_6754+3dup	rs759090170
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter)	rs778305085

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