ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000203.5(IDUA):c.158+1G>A rs1264013707
NM_000203.5(IDUA):c.159-1G>A rs1553914935
NM_000203.5(IDUA):c.159-2A>C
NM_000203.5(IDUA):c.159-2A>G
NM_000203.5(IDUA):c.191_192del (p.Tyr64fs) rs794727240
NM_000203.5(IDUA):c.299+1G>T rs398123259
NM_000203.5(IDUA):c.299_299+1delinsAT
NM_000203.5(IDUA):c.3G>A (p.Met1Ile) rs1553914740
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs) rs1553914762
NM_000203.5(IDUA):c.65del (p.Pro22fs)

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