ClinVar Miner

List of variants reported as likely pathogenic for Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 2; Persistent hyperinsulinemic hypoglycemia of infancy; Leucine-induced hypoglycemia; Diabetes mellitus type 2

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Total variants: 3
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HGVS dbSNP
NM_000352.4(ABCC8):c.290+2T>C rs1554948310
NM_000352.4(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715

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