ClinVar Miner

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

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Total variants: 15
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HGVS dbSNP
NM_025137.3(SPG11):c.(?_-1)_3520+?del
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.2146C>T (p.Gln716Ter) rs312262737
NM_025137.4(SPG11):c.2316+1G>A rs312262740
NM_025137.4(SPG11):c.2790del (p.Cys931fs) rs1085307097
NM_025137.4(SPG11):c.2834+1G>T rs312262749
NM_025137.4(SPG11):c.6151G>T (p.Glu2051Ter) rs771057519
NM_025137.4(SPG11):c.6343+1G>T rs1555447432
NM_025137.4(SPG11):c.6586-1G>T rs1060501174
NM_025137.4(SPG11):c.6826_6843+8del
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506
NM_025137.4(SPG11):c.7115T>A (p.Leu2372Ter) rs762984907
NM_025137.4(SPG11):c.7152-1G>C rs200079802
NM_025137.4(SPG11):c.733_734del (p.Met245fs) rs312262720

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