ClinVar Miner

List of variants in gene UCHL1 reported by GeneDx

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Gene type:
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Total variants: 29
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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.460-149T>C rs10004654 0.03829
NM_004181.5(UCHL1):c.527-74C>A rs71608068 0.03703
NM_004181.5(UCHL1):c.174+183G>A rs7658776 0.02842
NM_004181.5(UCHL1):c.45+95C>T rs368176539 0.01426
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.326-177G>A rs148171606 0.00537
NM_004181.5(UCHL1):c.586-35G>A rs116293750 0.00537
NM_004181.5(UCHL1):c.326-133C>T rs80031415 0.00536
NM_004181.5(UCHL1):c.174+46C>A rs186349613 0.00146
NM_004181.5(UCHL1):c.*245C>T rs140683078
NM_004181.5(UCHL1):c.-16C>T rs9321
NM_004181.5(UCHL1):c.106dup (p.Glu36fs)
NM_004181.5(UCHL1):c.326-4dup rs3214812
NM_004181.5(UCHL1):c.414del (p.Ile139fs)
NM_004181.5(UCHL1):c.46-199C>G rs143327054
NM_004181.5(UCHL1):c.460-252_460-249del rs148721279
NM_004181.5(UCHL1):c.526+221_526+222del rs55901744
NM_004181.5(UCHL1):c.527-199A>G rs17528160
NM_004181.5(UCHL1):c.607G>T (p.Glu203Ter)

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