ClinVar Miner

List of variants in gene LOC130056971, SPG11 studied for complex hereditary spastic paraplegia

Included ClinVar conditions (74):
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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.5270A>G (p.His1757Arg) rs139423939 0.00006
NM_025137.4(SPG11):c.5249C>T (p.Ser1750Phe) rs1051920299 0.00001
NM_025137.4(SPG11):c.5267C>G (p.Ala1756Gly) rs1185441476 0.00001
NM_025137.4(SPG11):c.5269C>T (p.His1757Tyr) rs1060501170 0.00001
NM_025137.4(SPG11):c.5272G>A (p.Val1758Met) rs773125953 0.00001
NM_025137.4(SPG11):c.5275G>T (p.Ala1759Ser) rs1346852806 0.00001
NM_025137.4(SPG11):c.5243C>G (p.Ala1748Gly) rs2082716750
NM_025137.4(SPG11):c.5246C>T (p.Ser1749Phe) rs1555448970
NM_025137.4(SPG11):c.5248del (p.Ser1750fs) rs2140947448
NM_025137.4(SPG11):c.5249_5252del (p.Ser1750fs)
NM_025137.4(SPG11):c.5255del (p.Phe1752fs) rs312262763
NM_025137.4(SPG11):c.5256C>G (p.Phe1752Leu) rs2140947410
NM_025137.4(SPG11):c.5258C>A (p.Ser1753Ter)
NM_025137.4(SPG11):c.5262C>T (p.Thr1754=)
NM_025137.4(SPG11):c.5263C>T (p.Gln1755Ter)
NM_025137.4(SPG11):c.5266G>A (p.Ala1756Thr)
NM_025137.4(SPG11):c.5268C>T (p.Ala1756=) rs1488363389
NM_025137.4(SPG11):c.5271T>C (p.His1757=) rs2082715909
NM_025137.4(SPG11):c.5277A>G (p.Ala1759=)
NM_025137.4(SPG11):c.5277A>T (p.Ala1759=)
NM_025137.4(SPG11):c.5280T>C (p.Cys1760=)

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