ClinVar Miner

List of variants in gene UCHL1 reported by Breakthrough Genomics, Breakthrough Genomics

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004181.5(UCHL1):c.585+117C>T rs3775256 0.19477
NM_004181.5(UCHL1):c.527-131C>G rs3756001 0.17561
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.16658
NC_000004.12:g.41256745G>A rs73809701 0.14332
NM_004181.5(UCHL1):c.527-126C>A rs3756000 0.11962
NM_004181.5(UCHL1):c.-24A>G rs11556271 0.11322
NM_004181.5(UCHL1):c.45+97C>G rs112424642 0.10110
NM_004181.5(UCHL1):c.45+6T>C rs11556273 0.05228
NM_004181.5(UCHL1):c.45+19C>A rs11556272 0.05109
NM_004181.5(UCHL1):c.527-74C>A rs71608068 0.03703
NM_004181.5(UCHL1):c.34-19C>T rs6832687 0.01240
NM_004181.5(UCHL1):c.558C>T (p.Gly186=) rs116680633 0.00540
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 0.00045
NM_004181.5(UCHL1):c.175-5C>T rs373327947 0.00036
NM_004181.5(UCHL1):c.383A>G (p.Asp128Gly) rs376624356 0.00012
NM_004181.5(UCHL1):c.444G>A (p.Gln148=) rs147393026 0.00005
NM_004181.5(UCHL1):c.*245C>T rs140683078
NM_004181.5(UCHL1):c.-16C>T rs9321
NM_004181.5(UCHL1):c.46-199C>G rs143327054
NM_004181.5(UCHL1):c.527-199A>G rs17528160

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