ClinVar Miner

List of variants reported as likely pathogenic for carbohydrate metabolism disease by AIC-CCMB Diagnostics Facility, CSIR - Centre for Cellular and Molecular Biology

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000525.3(KCNJ11):c.365T>C (p.Leu122Pro) rs1591695840

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