ClinVar Miner

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

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 76
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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.6258G>T (p.Leu2086=) rs150761878 0.00781
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg) rs76389165 0.00694
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser) rs140824939 0.00270
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu) rs141818132 0.00175
NM_025137.4(SPG11):c.3436A>G (p.Ile1146Val) rs114945876 0.00165
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
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.2887A>C (p.Arg963=) rs150689014 0.00127
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_025137.4(SPG11):c.7161A>T (p.Gln2387His) rs201918221 0.00086
NM_025137.4(SPG11):c.1605C>T (p.Ala535=) rs117683234 0.00045
NM_025137.4(SPG11):c.6632G>A (p.Arg2211His) rs144165094 0.00045
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_025137.4(SPG11):c.257+15A>C rs538988623 0.00032
NM_025137.4(SPG11):c.1775C>T (p.Ser592Leu) rs373796566 0.00029
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn) rs145132275 0.00026
NM_025137.4(SPG11):c.491C>T (p.Ser164Leu) rs148175530 0.00024
NM_025137.4(SPG11):c.6010T>G (p.Leu2004Val) rs200220848 0.00022
NM_025137.4(SPG11):c.5796T>C (p.His1932=) rs375350193 0.00019
NM_025137.4(SPG11):c.4873C>T (p.Leu1625Phe) rs371716779 0.00017
NM_025137.4(SPG11):c.2169C>T (p.Gly723=) rs371338650 0.00016
NM_025137.4(SPG11):c.4490A>G (p.Asn1497Ser) rs747973076 0.00016
NM_025137.4(SPG11):c.5315G>A (p.Arg1772His) rs150823040 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_025137.4(SPG11):c.1121C>G (p.Ser374Cys) rs144403346 0.00015
NM_025137.4(SPG11):c.5011C>T (p.His1671Tyr) rs141011688 0.00015
NM_025137.4(SPG11):c.6877C>T (p.Arg2293Trp) rs151317653 0.00014
NM_025137.4(SPG11):c.2245-13A>G rs200426807 0.00013
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.1457-4A>G rs773844127 0.00009
NM_025137.4(SPG11):c.6278G>A (p.Arg2093His) rs376817637 0.00009
NM_025137.4(SPG11):c.1602+10T>G rs201535432 0.00008
NM_025137.4(SPG11):c.3038+14A>G rs774593393 0.00007
NM_025137.4(SPG11):c.31G>C (p.Ala11Pro) rs529316227 0.00007
NM_025137.4(SPG11):c.6410G>A (p.Arg2137Gln) rs200283964 0.00007
NM_025137.4(SPG11):c.1008-4C>T rs369112409 0.00006
NM_025137.4(SPG11):c.2082C>T (p.Ser694=) rs375179506 0.00006
NM_025137.4(SPG11):c.3145+12C>T rs375672539 0.00006
NM_025137.4(SPG11):c.316G>A (p.Ala106Thr) rs201842512 0.00006
NM_025137.4(SPG11):c.6944A>C (p.Asn2315Thr) rs200276333 0.00006
NM_025137.4(SPG11):c.7146C>T (p.Ser2382=) rs747227352 0.00006
NM_025137.4(SPG11):c.7249G>A (p.Glu2417Lys) rs371313584 0.00006
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396 0.00005
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln) rs752401008 0.00005
NM_025137.4(SPG11):c.36C>T (p.Ser12=) rs368656047 0.00004
NM_025137.4(SPG11):c.4137A>G (p.Gln1379=) rs748617459 0.00003
NM_025137.4(SPG11):c.1182G>A (p.Gly394=) rs199968487 0.00002
NM_025137.4(SPG11):c.176C>T (p.Ala59Val) rs552320263 0.00002
NM_025137.4(SPG11):c.3146-6T>G rs777849932 0.00002
NM_025137.4(SPG11):c.5040G>T (p.Leu1680=) rs748057725 0.00002
NM_025137.4(SPG11):c.5407C>T (p.Leu1803=) rs200102584 0.00002
NM_025137.4(SPG11):c.1763A>G (p.Asp588Gly) rs763060505 0.00001
NM_025137.4(SPG11):c.3453+5A>G rs983973496 0.00001
NM_025137.4(SPG11):c.39C>T (p.Ala13=) rs759646328 0.00001
NM_025137.4(SPG11):c.5595A>G (p.Thr1865=) rs375403626 0.00001
NM_025137.4(SPG11):c.5598C>T (p.Cys1866=) rs570599267 0.00001
NM_025137.4(SPG11):c.581C>T (p.Pro194Leu) rs573482671 0.00001
NM_025137.4(SPG11):c.6726A>G (p.Gln2242=) rs376245210 0.00001
NM_025137.4(SPG11):c.7258T>A (p.Phe2420Ile) rs779900397 0.00001
NM_025137.4(SPG11):c.1558C>T (p.Leu520Phe) rs557277528
NM_025137.4(SPG11):c.3132C>G (p.Ala1044=) rs770666794
NM_025137.4(SPG11):c.3138C>T (p.Asn1046=) rs2083512162
NM_025137.4(SPG11):c.4052G>A (p.Arg1351Lys) rs564171625
NM_025137.4(SPG11):c.4161+9C>G rs1555451101
NM_025137.4(SPG11):c.4162-10T>C rs765557765
NM_025137.4(SPG11):c.4162-4C>T rs777010404
NM_025137.4(SPG11):c.437A>G (p.Asp146Gly) rs182535774
NM_025137.4(SPG11):c.6007-6T>C rs886051180
NM_025137.4(SPG11):c.60G>C (p.Ala20=) rs544136842
NM_025137.4(SPG11):c.6283T>C (p.Leu2095=) rs2082448894
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.7000-8C>T rs886051177
NM_025137.4(SPG11):c.7151+11A>C rs779150349
NM_025137.4(SPG11):c.7152-6A>G rs2082233766

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