ClinVar Miner

List of variants reported as benign for Hereditary sensory and autonomic neuropathy with spastic paraplegia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.426T>C (p.Arg142=) rs1042392 0.74241
NM_012073.5(CCT5):c.-23G>A rs2548546 0.74239
NM_012073.5(CCT5):c.198A>G (p.Gly66=) rs2578617 0.73455
NM_012073.5(CCT5):c.1317+10C>A rs2578642 0.73429
NM_012073.5(CCT5):c.-10T>C rs2578618 0.73426

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