ClinVar Miner

List of variants in gene SPG11 reported by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

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Total variants: 9
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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.2431C>T (p.Gln811Ter) rs756134516 0.00005
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter) rs141848292 0.00002
NM_025137.4(SPG11):c.1818_1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.4083C>A (p.Tyr1361Ter) rs764880157
NM_025137.4(SPG11):c.4396C>T (p.Gln1466Ter) rs2083030924
NM_025137.4(SPG11):c.6215_6219dup (p.Phe2074fs) rs2082450607
NM_025137.4(SPG11):c.777_781del (p.Ser261fs) rs2084965242

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