ClinVar Miner

List of variants in gene combination IDUA, SLC26A1 reported as uncertain significance for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP
NM_000203.4(IDUA):c.199A>T (p.Ser67Cys) rs370442463
NM_000203.5(IDUA):c.-2C>T
NM_000203.5(IDUA):c.103G>A (p.Asp35Asn) rs886059750
NM_000203.5(IDUA):c.11T>C (p.Leu4Pro) rs180984980
NM_000203.5(IDUA):c.130C>A (p.Arg44=) rs558851990
NM_000203.5(IDUA):c.156C>G (p.Phe52Leu) rs1421520718
NM_000203.5(IDUA):c.164C>T (p.Pro55Leu)
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.227A>G (p.Tyr76Cys) rs780165694
NM_000203.5(IDUA):c.22G>T (p.Ala8Ser)
NM_000203.5(IDUA):c.233G>A (p.Gly78Asp)
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.5(IDUA):c.237C>T (p.Ala79=) rs769676234
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.247C>T (p.Arg83Cys)
NM_000203.5(IDUA):c.248G>A (p.Arg83His) rs141461803
NM_000203.5(IDUA):c.249C>T (p.Arg83=) rs765563471
NM_000203.5(IDUA):c.26C>G (p.Ala9Gly)
NM_000203.5(IDUA):c.287T>G (p.Leu96Arg)
NM_000203.5(IDUA):c.299+10G>A rs775172497
NM_000203.5(IDUA):c.299+1212del rs1553915188
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.299+8G>A
NM_000203.5(IDUA):c.299G>A (p.Arg100Lys) rs777698606
NM_000203.5(IDUA):c.30G>A (p.Leu10=) rs549738466
NM_000203.5(IDUA):c.34_45dup (p.Ala12_Ala15dup) rs1553914754
NM_000203.5(IDUA):c.44C>T (p.Ala15Val) rs886059749
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.55G>C (p.Ala19Pro)
NM_000203.5(IDUA):c.64C>G (p.Pro22Ala)
NM_000203.5(IDUA):c.64C>T (p.Pro22Ser) rs1001972534
NM_000203.5(IDUA):c.65C>T (p.Pro22Leu) rs745879759
NM_000203.5(IDUA):c.69_77del (p.Ala24_Ala26del) rs1553914780
NM_000203.5(IDUA):c.73C>T (p.Pro25Ser)
NM_000203.5(IDUA):c.76G>A (p.Ala26Thr) rs746809894
NM_134425.4(SLC26A1):c.576+4114G>A rs886059748

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.