ClinVar Miner

List of variants in gene SPG11 reported as likely pathogenic for not provided

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Gene type:
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_025137.4(SPG11):c.2317-13C>G rs372670941 0.00002
NM_025137.4(SPG11):c.4075del (p.Ile1359fs) rs1405032433 0.00001
NM_025137.4(SPG11):c.6409C>T (p.Arg2137Ter) rs769898852 0.00001
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506 0.00001
NM_025137.4(SPG11):c.1679C>G (p.Ser560Ter) rs312262732
NM_025137.4(SPG11):c.1735+3_1735+6del rs312262734
NM_025137.4(SPG11):c.237C>A (p.Cys79Ter) rs1566838168
NM_025137.4(SPG11):c.2757_2775del (p.Leu920fs) rs1595888828
NM_025137.4(SPG11):c.27_28insCA (p.Ala10fs) rs1595945569
NM_025137.4(SPG11):c.2877C>A (p.Cys959Ter) rs786204176
NM_025137.4(SPG11):c.3000del (p.Leu1001fs) rs1555454488
NM_025137.4(SPG11):c.3260_3267dup (p.Tyr1090fs) rs1555453727
NM_025137.4(SPG11):c.3975_3993del (p.Asn1325fs) rs1555451417
NM_025137.4(SPG11):c.4042C>T (p.Gln1348Ter) rs1555451152
NM_025137.4(SPG11):c.4162-10T>G
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.4740_4743dup (p.Leu1582fs)
NM_025137.4(SPG11):c.4773dup (p.Val1592fs) rs1064795062
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer) rs1323156960
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6737_6740del (p.Ile2246fs) rs312262781
NM_025137.4(SPG11):c.6754+5G>A
NM_025137.4(SPG11):c.7155T>G (p.Tyr2385Ter) rs778305085

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