ClinVar Miner

List of variants in gene UCHL1 reported as uncertain significance for Parkinson disease

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 19
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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.*84C>G rs959534314 0.00036
NM_004181.5(UCHL1):c.*125C>T rs886059408 0.00019
NM_004181.5(UCHL1):c.457C>T (p.Arg153Trp) rs139583787 0.00014
NM_004181.4(UCHL1):c.-51C>A rs371943957 0.00013
NM_004181.5(UCHL1):c.533G>A (p.Arg178Gln) rs768996179 0.00005
NM_004181.5(UCHL1):c.-26C>T rs746877403 0.00004
NM_004181.5(UCHL1):c.-17C>T rs367935445 0.00003
NM_004181.4(UCHL1):c.-59C>G rs577696101 0.00002
NM_004181.5(UCHL1):c.412-4G>A rs765745344 0.00002
NM_004181.5(UCHL1):c.-25T>C rs1780982671 0.00001
NM_004181.5(UCHL1):c.527-3C>T rs749663332 0.00001
NM_004181.5(UCHL1):c.*250T>C rs564857603
NM_004181.5(UCHL1):c.-46T>C rs901082145
NM_004181.5(UCHL1):c.-47C>T rs752001613
NM_004181.5(UCHL1):c.174+6G>A rs1379113927
NM_004181.5(UCHL1):c.223G>A (p.Val75Ile) rs148096293
NM_004181.5(UCHL1):c.33+5G>C rs886059407
NM_004181.5(UCHL1):c.586-4C>A rs1431899503

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