ClinVar Miner

List of variants in gene SPG11 reported as likely benign by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.6477+13del rs574960359

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