ClinVar Miner

List of variants reported as likely pathogenic for hereditary spastic paraplegia 11 by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 55
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.6157G>A (p.Val2053Met) rs149003934 0.00006
NM_025137.4(SPG11):c.3292-1G>T rs201217015 0.00003
NM_025137.4(SPG11):c.258-2A>C rs781665076 0.00002
NM_025137.4(SPG11):c.6205+1G>A rs753650233 0.00001
NC_000015.9:g.(?_44887437)_(44891054_?)dup
NC_000015.9:g.(?_44918627)_(44928701_?)del
NC_000015.9:g.(?_44921451)_(44925371_?)del
NC_000015.9:g.(?_44945058)_(44949397_?)del
NM_025137.3(SPG11):c.(?_-1)_3520+?del
NM_025137.4(SPG11):c.1008-1G>A rs2141107413
NM_025137.4(SPG11):c.1456+1G>T
NM_025137.4(SPG11):c.1602+1G>A
NM_025137.4(SPG11):c.1603-25_1690del rs2141056788
NM_025137.4(SPG11):c.2068-1G>A
NM_025137.4(SPG11):c.2278T>C (p.Cys760Arg)
NM_025137.4(SPG11):c.2316+5G>A rs879255274
NM_025137.4(SPG11):c.258-2A>G rs781665076
NM_025137.4(SPG11):c.3039-1G>T
NM_025137.4(SPG11):c.3114_3145+45del rs2083509815
NM_025137.4(SPG11):c.3145+1G>T rs956922949
NM_025137.4(SPG11):c.3292-1G>C
NM_025137.4(SPG11):c.3520+1G>A
NM_025137.4(SPG11):c.3521-2A>G
NM_025137.4(SPG11):c.3686+2_3686+3del rs1268481547
NM_025137.4(SPG11):c.3687-1_3687delinsTA
NM_025137.4(SPG11):c.3687-2A>G
NM_025137.4(SPG11):c.3893-14_3902inv
NM_025137.4(SPG11):c.4002-7_4002-1del
NM_025137.4(SPG11):c.442+4_442+7del
NM_025137.4(SPG11):c.443-1G>A rs1040633382
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4906+2T>C
NM_025137.4(SPG11):c.4907-10_4911del rs2082751022
NM_025137.4(SPG11):c.4907-2A>C
NM_025137.4(SPG11):c.5087C>G (p.Ala1696Gly)
NM_025137.4(SPG11):c.5121+2T>G
NM_025137.4(SPG11):c.5122-1G>A rs2140947703
NM_025137.4(SPG11):c.6343+1G>T rs1555447432
NM_025137.4(SPG11):c.6478-2A>C rs2082374687
NM_025137.4(SPG11):c.6478-2A>G
NM_025137.4(SPG11):c.6585+2T>G rs2140920796
NM_025137.4(SPG11):c.6586-1G>A rs1060501174
NM_025137.4(SPG11):c.6586-1G>T rs1060501174
NM_025137.4(SPG11):c.667+1G>A
NM_025137.4(SPG11):c.668-1G>A
NM_025137.4(SPG11):c.668-1G>T rs2141121333
NM_025137.4(SPG11):c.6755-1G>A
NM_025137.4(SPG11):c.6826_6843+8del rs1595817498
NM_025137.4(SPG11):c.6844-2A>G rs2140913822
NM_025137.4(SPG11):c.6899T>G (p.Leu2300Arg) rs371334506
NM_025137.4(SPG11):c.6999+1G>A rs1191614292
NM_025137.4(SPG11):c.6999+1G>C rs1191614292
NM_025137.4(SPG11):c.7000-1G>A
NM_025137.4(SPG11):c.7000-3_7000-2delinsGC rs2140911612
NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs) rs1567123492

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