ClinVar Miner

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

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052
NM_000203.5(IDUA):c.236C>T (p.Ala79Val) rs747981483
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.24C>A (p.Ala8=) rs11248061
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060
NM_000203.5(IDUA):c.299+1947A>G rs148386572
NM_000203.5(IDUA):c.299+6C>T rs147498923
NM_000203.5(IDUA):c.299+7G>A rs200911718
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met)

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