ClinVar Miner

List of variants in gene HUWE1 studied for Mental retardation, X-linked, syndromic, Turner type

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Total variants: 45
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HGVS dbSNP
NM_031407.7(HUWE1):c.-24-2A>G rs1569511527
NM_031407.7(HUWE1):c.10580T>C (p.Val3527Ala)
NM_031407.7(HUWE1):c.10964G>A (p.Arg3655Gln)
NM_031407.7(HUWE1):c.11701C>T (p.Arg3901Ter) rs1085307073
NM_031407.7(HUWE1):c.11870G>A (p.Arg3957His)
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.12188G>A (p.Arg4063Gln) rs1569399945
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.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.7(HUWE1):c.12559C>T (p.Arg4187Cys) rs121918527
NM_031407.7(HUWE1):c.12671C>T (p.Ala4224Val) rs398124423
NM_031407.7(HUWE1):c.12732G>C (p.Glu4244Asp) rs1556910184
NM_031407.7(HUWE1):c.12860C>T (p.Ser4287Phe) rs143599552
NM_031407.7(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_031407.7(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.7(HUWE1):c.1355G>C (p.Gly452Ala)
NM_031407.7(HUWE1):c.145-2A>G rs1569509136
NM_031407.7(HUWE1):c.1612A>G (p.Thr538Ala)
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.3239G>A (p.Arg1080His) rs1057518704
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.344C>T (p.Ser115Phe) rs1557036757
NM_031407.7(HUWE1):c.3896G>A (p.Arg1299Gln) rs781793405
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.4229C>T (p.Ala1410Val) rs200500110
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu) rs1602910127
NM_031407.7(HUWE1):c.4639G>A (p.Val1547Met) rs1569473370
NM_031407.7(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_031407.7(HUWE1):c.567+1G>C rs1557024919
NM_031407.7(HUWE1):c.5986C>T (p.Arg1996Cys) rs1602749982
NM_031407.7(HUWE1):c.6098-20_6109del rs1602738933
NM_031407.7(HUWE1):c.6267T>G (p.Ile2089Met) rs1556955128
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile) rs782119109
NM_031407.7(HUWE1):c.7633C>T (p.Arg2545Cys)
NM_031407.7(HUWE1):c.8313A>T (p.Gln2771His)
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.9209G>A (p.Arg3070His)
NM_031407.7(HUWE1):c.9581T>C (p.Phe3194Ser) rs782393002

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