ClinVar Miner

List of variants reported as likely benign for hereditary sensory and autonomic neuropathy with spastic paraplegia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_012073.5(CCT5):c.*1042T>C rs376234447 0.00051
NM_012073.5(CCT5):c.*1087A>T rs190835896 0.00051
NM_012073.5(CCT5):c.1070G>A (p.Gly357Asp) rs143444882 0.00006

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