ClinVar Miner

Variants in gene SPG11 with conflicting interpretations "uncertain significance" and "benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 20
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=) rs80338869 0.02054
NM_025137.4(SPG11):c.7197G>A (p.Lys2399=) rs61732733 0.00809
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_025137.4(SPG11):c.4578A>G (p.Thr1526=) rs151137503 0.00267
NM_025137.4(SPG11):c.4001+9G>T rs141177255 0.00220
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_025137.4(SPG11):c.16G>A (p.Gly6Arg) rs200573434 0.00145
NM_025137.4(SPG11):c.4755A>C (p.Ala1585=) rs144951661 0.00083
NM_025137.4(SPG11):c.4026A>G (p.Gln1342=) rs139887370 0.00066
NM_025137.4(SPG11):c.1384T>C (p.Cys462Arg) rs139019255 0.00058
NM_025137.4(SPG11):c.763A>G (p.Lys255Glu) rs139091750 0.00049
NM_025137.4(SPG11):c.1270C>A (p.Pro424Thr) rs141596008 0.00040
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_025137.4(SPG11):c.6284T>C (p.Leu2095Ser) rs185665930 0.00026
NM_025137.4(SPG11):c.4410C>T (p.Leu1470=) rs145579121 0.00014
NM_025137.4(SPG11):c.3648G>A (p.Leu1216=) rs370282739 0.00007
NM_025137.4(SPG11):c.789A>G (p.Lys263=) rs764439012 0.00006
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.6205+10C>G rs548551204
NM_025137.4(SPG11):c.6477+13del rs574960359

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