ClinVar Miner

List of variants reported as likely benign for diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency by Mendelics

Included ClinVar conditions (6):

Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1
Hyperinsulinemic hypoglycemia, familial, 1; Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Diabetes mellitus, permanent neonatal 3
Hyperinsulinemic hypoglycemia, familial, 1; Type 2 diabetes mellitus
Permanent neonatal diabetes mellitus; Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)	rs139524121	0.00102
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)	rs933815442	0.00001

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