List of variants in gene UCHL1 reported as uncertain significance by Ambry Genetics

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004181.5(UCHL1):c.383A>G (p.Asp128Gly)	rs376624356	0.00012
NM_004181.5(UCHL1):c.407A>G (p.Asn136Ser)	rs139618482	0.00005
NM_004181.5(UCHL1):c.616G>A (p.Glu206Lys)	rs779215950	0.00003
NM_004181.5(UCHL1):c.256A>G (p.Ile86Val)	rs1265524715	0.00001
NM_004181.5(UCHL1):c.425C>T (p.Ala142Val)	rs900235906	0.00001
NM_004181.5(UCHL1):c.459+3A>G	rs199514166	0.00001
NM_004181.5(UCHL1):c.506A>G (p.Asp169Gly)	rs917125455	0.00001
NM_004181.5(UCHL1):c.115C>G (p.Leu39Val)
NM_004181.5(UCHL1):c.11A>G (p.Lys4Arg)
NM_004181.5(UCHL1):c.16A>T (p.Met6Leu)	rs201864413
NM_004181.5(UCHL1):c.199A>C (p.Ile67Leu)
NM_004181.5(UCHL1):c.340C>G (p.Leu114Val)
NM_004181.5(UCHL1):c.366G>T (p.Glu122Asp)	rs2551922695
NM_004181.5(UCHL1):c.605G>T (p.Arg202Ile)
NM_004181.5(UCHL1):c.608A>G (p.Glu203Gly)	rs1781181848

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