ClinVar Miner

List of variants reported as likely pathogenic for Spastic paraplegia 11, autosomal recessive

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Total variants: 31
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HGVS dbSNP
NC_000015.9:g.(?_44898135)_(44955917_?)del
NM_025137.3(SPG11):c.(?_-1)_3520+?del
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1603-25_1690del
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.1877del (p.Phe626fs)
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2790del (p.Cys931fs) rs1085307097
NM_025137.4(SPG11):c.2834+1G>T rs312262749
NM_025137.4(SPG11):c.3114_3145+45del
NM_025137.4(SPG11):c.3145+1G>T
NM_025137.4(SPG11):c.3686+2_3686+3del
NM_025137.4(SPG11):c.3785G>T (p.Gly1262Val) rs1057518874
NM_025137.4(SPG11):c.443-1G>A
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4852G>T (p.Glu1618Ter)
NM_025137.4(SPG11):c.4877_4878del (p.Phe1626fs)
NM_025137.4(SPG11):c.4907-10_4911del
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter) rs771057519
NM_025137.4(SPG11):c.6343+1G>T rs1555447432
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852
NM_025137.4(SPG11):c.6437_6438del (p.Thr2146fs)
NM_025137.4(SPG11):c.6586-1G>T rs1060501174
NM_025137.4(SPG11):c.667+5C>T rs375485062
NM_025137.4(SPG11):c.6826_6843+8del rs1595817498
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506
NM_025137.4(SPG11):c.6925C>T (p.Gln2309Ter) rs1595817021
NM_025137.4(SPG11):c.7000-3_7000-2insAGG rs312262787
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter) rs762984907
NM_025137.4(SPG11):c.7158_7161dup (p.His2388fs)
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720

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