ClinVar Miner

List of intergenic variants reported as pathogenic for Myopathy, Central Core

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
LRG_766p1:p.F4808P
LRG_766p1:p.G4638N
LRG_766p1:p.G4890R
LRG_766p1:p.G4899R
LRG_766p1:p.N4939Q
LRG_766p1:p.Q160G
LRG_766p1:p.Q474H
LRG_766p1:p.Q512K
LRG_766p1:p.R146C
LRG_766p1:p.R2434H
LRG_766p1:p.V4849R
NP_000531.2:p.4894Q
NP_000531.2:p.F4860del
NP_000531.2:p.F4906del
NP_000531.2:p.G4893R
NP_000531.2:p.L4647del
p.L4796C
p.M2434K

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