ClinVar Miner

List of variants in gene HUWE1 reported by New York Genome Center

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_031407.7(HUWE1):c.2905G>A (p.Ala969Thr) rs138433243 0.00006
NM_031407.7(HUWE1):c.11710C>T (p.Arg3904Cys) rs782376870 0.00003
NM_031407.7(HUWE1):c.12602A>C (p.Glu4201Ala) rs2146826433
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn) rs2067907694
NM_031407.7(HUWE1):c.7507+7T>C rs2147654560
NM_031407.7(HUWE1):c.8371G>T (p.Ala2791Ser) rs2047925685
NM_031407.7(HUWE1):c.8383G>T (p.Gly2795Cys) rs2061922447
NM_031407.7(HUWE1):c.8493A>G (p.Ile2831Met) rs2147396387
NM_031407.7(HUWE1):c.9514C>G (p.Leu3172Val) rs2147253217

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