List of variants in gene HUWE1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala)	rs145758265	0.00081
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val)	rs142574684	0.00025
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=)	rs149577148	0.00024
NM_031407.7(HUWE1):c.10492G>A (p.Ala3498Thr)	rs782773400	0.00005
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu)	rs782526786	0.00004
NM_031407.7(HUWE1):c.11996+9C>T	rs782772316	0.00003
NM_031407.7(HUWE1):c.8558A>T (p.Glu2853Val)	rs782052479	0.00002
NM_031407.7(HUWE1):c.811A>G (p.Arg271Gly)	rs797044641	0.00001
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val)	rs398124423
NM_031407.7(HUWE1):c.1348C>T (p.His450Tyr)	rs797044657
NM_031407.7(HUWE1):c.2192AGGAAG[1] (p.Glu733_Glu734del)	rs398124424
NM_031407.7(HUWE1):c.5528G>A (p.Arg1843His)	rs727503965
NM_031407.7(HUWE1):c.8235AAC[1] (p.Thr2747del)	rs797044773

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