ClinVar Miner

List of variants in gene KCNJ11 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 11
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NM_000525.3(KCNJ11):c.-134G>T rs387906398
NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274
NM_000525.3(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_000525.3(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.3(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237
NM_000525.3(KCNJ11):c.776A>G (p.His259Arg) rs104894248
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) rs780957825
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del)
NM_001166290.2(KCNJ11):c.-16-210C>A rs104894236

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