ClinVar Miner

List of variants studied for Parkinson disease 5, autosomal dominant, susceptibility to

Included ClinVar conditions (2):
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Total variants: 35
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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.*276T>A rs116336893 0.00483
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.370A>C (p.Met124Leu) rs150601238 0.00081
NM_004181.5(UCHL1):c.*84C>G rs959534314 0.00036
NM_004181.5(UCHL1):c.175-5C>T rs373327947 0.00036
NM_004181.5(UCHL1):c.513C>T (p.His171=) rs145093131 0.00036
NM_004181.5(UCHL1):c.609A>G (p.Glu203=) rs147661219 0.00031
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.69C>T (p.Ala23=) rs753720793 0.00012
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.175-4G>A rs778240876 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.-16C>T rs9321
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.279C>G (p.Ile93Met) rs121917767
NM_004181.5(UCHL1):c.326-4del rs3214812
NM_004181.5(UCHL1):c.33+5G>C rs886059407
NM_004181.5(UCHL1):c.586-4C>A rs1431899503

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