ClinVar Miner

List of variants in gene SPG11 reported as pathogenic for Charcot-Marie-Tooth disease type 2

Included ClinVar conditions (59):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_025137.4(SPG11):c.1085G>A (p.Trp362Ter) rs140385286
NM_025137.4(SPG11):c.118C>T (p.Gln40Ter) rs267607084
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter) rs765061840
NM_025137.4(SPG11):c.524_528ATATT[1] (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter) rs863225440
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs) rs863225439
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro) rs371334506

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