ClinVar Miner

List of variants in gene HUWE1 reported as likely pathogenic

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Gene type:
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Total variants: 57
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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.12980G>A (p.Arg4327Gln) rs1290768701 0.00002
NM_031407.7(HUWE1):c.11201G>A (p.Arg3734Gln)
NM_031407.7(HUWE1):c.1129C>T (p.Pro377Ser)
NM_031407.7(HUWE1):c.12037C>T (p.Arg4013Trp) rs121918525
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.7(HUWE1):c.12205A>T (p.Ile4069Phe) rs1556913268
NM_031407.7(HUWE1):c.12225C>G (p.Asn4075Lys) rs1556913258
NM_031407.7(HUWE1):c.12226C>T (p.Pro4076Ser) rs2061073406
NM_031407.7(HUWE1):c.12227C>G (p.Pro4076Arg)
NM_031407.7(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12404A>C (p.His4135Pro) rs2146878120
NM_031407.7(HUWE1):c.12463C>G (p.Gln4155Glu) rs2146868509
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.12511G>T (p.Asp4171Tyr) rs1569398624
NM_031407.7(HUWE1):c.12559C>A (p.Arg4187Ser) rs121918527
NM_031407.7(HUWE1):c.12560G>A (p.Arg4187His) rs1556911750
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
NM_031407.7(HUWE1):c.12650G>C (p.Gly4217Ala) rs1556910261
NM_031407.7(HUWE1):c.12719C>T (p.Ser4240Phe)
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp) rs1556910184
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_031407.7(HUWE1):c.12904G>A (p.Gly4302Ser) rs1556909335
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.13070G>A (p.Arg4357His) rs2060850988
NM_031407.7(HUWE1):c.145-2A>G rs1569509136
NM_031407.7(HUWE1):c.1528T>C (p.Ser510Pro) rs1057524560
NM_031407.7(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.7(HUWE1):c.2007T>G (p.His669Gln) rs1557006873
NM_031407.7(HUWE1):c.2320-19A>G
NM_031407.7(HUWE1):c.2329G>A (p.Val777Met)
NM_031407.7(HUWE1):c.314A>T (p.Glu105Val) rs1057521796
NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) rs1057518704
NM_031407.7(HUWE1):c.328C>T (p.Arg110Trp) rs1057520538
NM_031407.7(HUWE1):c.344C>T (p.Ser115Phe) rs1557036757
NM_031407.7(HUWE1):c.3982A>G (p.Met1328Val) rs1556978515
NM_031407.7(HUWE1):c.4013C>T (p.Ala1338Val) rs863224879
NM_031407.7(HUWE1):c.425G>A (p.Ser142Asn) rs2067907694
NM_031407.7(HUWE1):c.489ACA[1] (p.Gln164del) rs2067904283
NM_031407.7(HUWE1):c.5011G>A (p.Glu1671Lys) rs2063759438
NM_031407.7(HUWE1):c.5632G>T (p.Ala1878Ser)
NM_031407.7(HUWE1):c.5974C>T (p.Arg1992Trp)
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met) rs1556955128
NM_031407.7(HUWE1):c.6311A>G (p.Glu2104Gly)
NM_031407.7(HUWE1):c.647C>T (p.Thr216Ile) rs2066881864
NM_031407.7(HUWE1):c.6652A>G (p.Lys2218Glu)
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.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.7(HUWE1):c.9392C>T (p.Thr3131Ile) rs1556927963
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser) rs782393002
NM_031407.7(HUWE1):c.9883G>A (p.Gly3295Ser) rs2147247961

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