ClinVar Miner

List of variants studied for autosomal dominant hyperinsulinism due to SUR1 deficiency by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (7):

Autosomal dominant hyperinsulinism due to SUR1 deficiency
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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.2666A>C (p.Lys889Thr)	rs761862121	0.00002
NM_000352.6(ABCC8):c.1844C>G (p.Ser615Cys)
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)	rs193922400
NM_000352.6(ABCC8):c.4021C>T (p.Gln1341Ter)	rs1057516718
NM_000352.6(ABCC8):c.4297G>C (p.Gly1433Arg)
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)	rs387906407
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426

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