ClinVar Miner

List of variants in gene SPG11 reported as uncertain significance 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: 5
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HGVS dbSNP
NM_025137.4(SPG11):c.3425C>G (p.Ser1142Cys) rs201082396
NM_025137.4(SPG11):c.5471G>A (p.Arg1824Gln)
NM_025137.4(SPG11):c.6043G>A (p.Asp2015Asn) rs771242219
NM_025137.4(SPG11):c.604A>G (p.Met202Val) rs201875705
NM_025137.4(SPG11):c.6625C>T (p.Arg2209Cys) rs374057859

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