List of variants reported as pathogenic for diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 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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