ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000352.6(ABCC8):c.4431C>T (p.Gly1477=) rs145673861
NM_000352.6(ABCC8):c.878A>C (p.His293Pro) rs587783175
NM_000525.3(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_001287174.2(ABCC8):c.1332+4del rs587783164
NM_006516.3(SLC2A1):c.1007_1009del (p.Leu336del) rs587784389
NM_006516.3(SLC2A1):c.543C>T (p.Gly181=) rs377674001
NM_006516.3(SLC2A1):c.679+4C>A rs139492241
NM_006516.3(SLC2A1):c.680-10G>T rs587784394
NM_006516.3(SLC2A1):c.777C>T (p.Ile259=) rs78388808

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