ClinVar Miner

List of variants in gene UCHL1 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr) rs5030732 0.16658
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.34-19C>T rs6832687 0.01240
NM_004181.5(UCHL1):c.558C>T (p.Gly186=) rs116680633 0.00540
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.175-18C>T rs79021365
NM_004181.5(UCHL1):c.326-4del rs3214812
NM_004181.5(UCHL1):c.326-4dup rs3214812
NM_004181.5(UCHL1):c.326-5_326-4dup rs3214812

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