List of variants reported as pathogenic for autosomal dominant hyperinsulinism due to SUR1 deficiency by OMIM

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Total variants: 16

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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.3989-9G>A	rs151344623	0.00019
NM_000352.4(ABCC8):c.-190C>G	rs1395224084	0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp)	rs28936371	0.00001
NM_000352.4:c.(?_1818)_(1923_?)del
NM_000352.6(ABCC8):c.1333-1013A>G	rs980458021
NM_000352.6(ABCC8):c.1672-20A>G	rs931436550
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val)	rs72559723
NM_000352.6(ABCC8):c.2292-1G>A	rs1564905676
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro)	rs28936370
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del)	rs387906408
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)	rs151344624
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys)	rs28938469
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)	rs387906407
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)	rs137852671
NM_000352.6(ABCC8):c.512dup (p.Thr172fs)	rs1564980510

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