ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP
NM_000203.5(IDUA):c.141G>A (p.Trp47Ter)
NM_000203.5(IDUA):c.152G>A (p.Gly51Asp) rs794726877
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.164dup (p.Leu56fs)
NM_000203.5(IDUA):c.170_209dup (p.Gln70delinsHisThrGlnProGlyTer) rs1577508778
NM_000203.5(IDUA):c.178C>T (p.Gln60Ter) rs1577508801
NM_000203.5(IDUA):c.187C>T (p.Gln63Ter)
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter) rs121965022
NM_000203.5(IDUA):c.1A>C (p.Met1Leu) rs1553914737
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020
NM_000203.5(IDUA):c.209del (p.Gln70fs)
NM_000203.5(IDUA):c.223G>A (p.Ala75Thr) rs758452450
NM_000203.5(IDUA):c.242dup (p.His82fs)
NM_000203.5(IDUA):c.265C>T (p.Arg89Trp) rs754966840
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln) rs121965029
NM_000203.5(IDUA):c.2T>C (p.Met1Thr) rs753767675
NM_000203.5(IDUA):c.46_57del (p.Ser16_Ala19del) rs398123260
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.60del (p.Pro22fs)
NM_000203.5(IDUA):c.87del (p.His30fs)

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