ClinVar Miner

List of variants in gene UCHL1 reported as benign for basal ganglia disorder

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.15471
NM_004181.5(UCHL1):c.-24A>G rs11556271 0.11322
NM_004181.5(UCHL1):c.45+6T>C rs11556273 0.05228
NM_004181.5(UCHL1):c.558C>T (p.Gly186=) rs116680633 0.00540
NM_004181.5(UCHL1):c.*309T>C rs78683791 0.00537
NM_004181.5(UCHL1):c.*294G>A rs116700032 0.00381
NM_004181.4(UCHL1):c.-71C>G rs201100258 0.00108
NM_004181.5(UCHL1):c.609A>G (p.Glu203=) rs147661219 0.00031
NM_004181.5(UCHL1):c.-16C>T rs9321

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