ClinVar Miner

List of variants in gene HUWE1 reported as pathogenic by GeneDx

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527 0.00002
NM_031407.7(HUWE1):c.12680T>C (p.Leu4227Ser) rs1057517893
NM_031407.7(HUWE1):c.12691T>C (p.Tyr4231His) rs1064793631
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768
NM_031407.7(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.7(HUWE1):c.9209G>A (p.Arg3070His) rs2061745581

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