List of variants studied for autosomal dominant hyperinsulinism due to SUR1 deficiency by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp)	rs137852672	0.00022
NM_000352.6(ABCC8):c.2797C>T (p.Arg933Ter)	rs570388861	0.00003
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)	rs72559722	0.00002
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)	rs1554924035	0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)	rs193922402	0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	rs72559715	0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter)	rs72559730	0.00001
NM_000352.6(ABCC8):c.2835_2838del (p.Arg946fs)	rs1554913069
NM_000352.6(ABCC8):c.3107G>A (p.Trp1036Ter)	rs755259997
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)	rs2133402479
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)	rs193922405
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213

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