ClinVar Miner

List of variants studied for hereditary spastic paraplegia 11 by Paris Brain Institute, Inserm - ICM

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 34
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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.733_734del (p.Met245fs) rs312262720 0.00005
NM_025137.4(SPG11):c.2834+1G>T rs312262749 0.00003
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963 0.00003
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440 0.00002
NM_025137.4(SPG11):c.704_705del (p.His235fs) rs312262719 0.00002
NM_025137.4(SPG11):c.2740C>T (p.Gln914Ter) rs761896412 0.00001
NM_025137.4(SPG11):c.3039-5T>G rs763224175 0.00001
NM_025137.4(SPG11):c.5866+1G>A rs765725393 0.00001
NC_000015.9:g.(44884528_44881613)_(44877833_44876757)dup
NC_000015.9:g.(44887456_44884637)_(44881449_44878049)del
NC_000015.9:g.(?_44955845)_(44918529_44914997)del
NM_025137.4(SPG11):c.1130del (p.His377fs) rs2141106983
NM_025137.4(SPG11):c.1203del (p.Asp402fs) rs312262722
NM_025137.4(SPG11):c.1235C>G (p.Ser412Ter) rs312262723
NM_025137.4(SPG11):c.1293_1294insTT (p.Val432fs) rs2141106328
NM_025137.4(SPG11):c.1471_1472del (p.Leu491fs) rs312262727
NM_025137.4(SPG11):c.1819del (p.Ser607fs) rs1220982145
NM_025137.4(SPG11):c.1837_1838insA (p.Leu613fs) rs312262735
NM_025137.4(SPG11):c.2339dup (p.Asn780fs) rs1454768655
NM_025137.4(SPG11):c.2362dup (p.Arg788fs) rs2141029118
NM_025137.4(SPG11):c.2849del (p.Leu950fs) rs1470463921
NM_025137.4(SPG11):c.3075dup (p.Glu1026fs) rs312262752
NM_025137.4(SPG11):c.3447del (p.Ile1150fs) rs2140999428
NM_025137.4(SPG11):c.3686+4A>G rs1595865855
NM_025137.4(SPG11):c.4002-2A>G rs2140973951
NM_025137.4(SPG11):c.4290dup (p.Leu1431fs) rs2140972000
NM_025137.4(SPG11):c.4406_4407insTA (p.Leu1470fs) rs2140971667
NM_025137.4(SPG11):c.5032G>T (p.Glu1678Ter) rs1277084672
NM_025137.4(SPG11):c.5769del (p.Ser1923fs) rs312262770
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.6123dup (p.Gln2042fs) rs2140928964
NM_025137.4(SPG11):c.6343+5G>T rs756302161
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786

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