ClinVar Miner

List of variants in gene SPG11 reported by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_025137.4(SPG11):c.6952C>T (p.Arg2318Cys) rs377341108 0.00003
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs) rs2082842632
NM_025137.4(SPG11):c.668-28G>A rs749231608
NM_025137.4(SPG11):c.7152-6A>G rs2082233766

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