ClinVar Miner

List of variants studied for X-linked syndromic intellectual disability by Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_031407.6(HUWE1):c.12067C>T (p.Arg4023Cys) rs1556914274
NM_031407.6(HUWE1):c.12205A>T (p.Ile4069Phe) rs1556913268
NM_031407.6(HUWE1):c.12225C>G (p.Asn4075Lys) rs1556913258
NM_031407.6(HUWE1):c.12317A>G (p.Tyr4106Cys) rs1556913180
NM_031407.6(HUWE1):c.12469C>G (p.Leu4157Val) rs1556912828
NM_031407.6(HUWE1):c.12732G>C (p.Glu4244Asp) rs1556910184
NM_031407.6(HUWE1):c.12885G>C (p.Lys4295Asn) rs1325394060
NM_031407.6(HUWE1):c.12928G>C (p.Gly4310Arg) rs1556909287
NM_031407.6(HUWE1):c.1978G>A (p.Gly660Arg) rs1557006903
NM_031407.6(HUWE1):c.2007T>G (p.His669Gln) rs1557006873
NM_031407.6(HUWE1):c.344C>T (p.Ser115Phe) rs1557036757
NM_031407.6(HUWE1):c.3982A>G (p.Met1328Val) rs1556978515
NM_031407.6(HUWE1):c.4942A>T (p.Ser1648Cys) rs201226547
NM_031407.6(HUWE1):c.567+1G>C rs1557024919
NM_031407.6(HUWE1):c.6267T>G (p.Ile2089Met) rs1556955128
NM_031407.6(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031407.6(HUWE1):c.9581T>C (p.Phe3194Ser) rs782393002
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln) rs1557036768

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