ClinVar Miner

List of variants studied for hereditary sensory and autonomic neuropathy with spastic paraplegia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.332-18C>G rs11741923 0.01963
NM_012073.5(CCT5):c.437A>T (p.Glu146Val) rs11557652 0.01601
NM_012073.5(CCT5):c.1086C>G (p.Ile362Met) rs141675330 0.00491
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_012073.5(CCT5):c.331+14A>T rs201171003 0.00199
NM_012073.5(CCT5):c.1425C>T (p.Thr475=) rs370529963 0.00021
NM_012073.5(CCT5):c.1005C>T (p.Ile335=) rs1282889055 0.00001

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