List of variants reported as likely pathogenic for autosomal dominant hyperinsulinism due to SUR1 deficiency by Genetic Services Laboratory, University of Chicago

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.2921-9G>A	rs757171524	0.00003
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro)	rs797045206	0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro)	rs72559713	0.00001
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met)	rs1554924142
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg)	rs797045208
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu)	rs1554905662
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val)	rs193922405
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup)	rs797045212

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