ClinVar Miner

List of variants reported as pathogenic for Hyperinsulinemic hypoglycemia, familial, 2 by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_000525.4(KCNJ11):c.-134G>T rs387906398
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter) rs104894236
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del) rs1953574433

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