List of variants in gene HUWE1 reported as likely pathogenic by GeneDx

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_031407.7(HUWE1):c.11201G>A (p.Arg3734Gln)
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)	rs1556914274
NM_031407.7(HUWE1):c.12560G>A (p.Arg4187His)	rs1556911750
NM_031407.7(HUWE1):c.12650G>C (p.Gly4217Ala)	rs1556910261
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg)	rs1556909287
NM_031407.7(HUWE1):c.12946G>C (p.Gly4316Arg)
NM_031407.7(HUWE1):c.12990G>C (p.Arg4330Ser)	rs1057521722
NM_031407.7(HUWE1):c.1528T>C (p.Ser510Pro)	rs1057524560
NM_031407.7(HUWE1):c.314A>T (p.Glu105Val)	rs1057521796
NM_031407.7(HUWE1):c.6664G>T (p.Val2222Phe)	rs1057521730
NM_031407.7(HUWE1):c.7066C>T (p.Leu2356Phe)	rs1057521791
NM_031407.7(HUWE1):c.8905G>A (p.Asp2969Asn)	rs1556928966
NM_031407.7(HUWE1):c.8942G>A (p.Arg2981His)	rs121918526
NM_031407.7(HUWE1):c.9392C>T (p.Thr3131Ile)	rs1556927963

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