List of variants studied for diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency by Mendelics

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)	rs58241708	0.00272
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)	rs139524121	0.00102
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)	rs139486832	0.00022
NM_000352.6(ABCC8):c.2041-21G>A	rs746714109	0.00004
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr)	rs765529676	0.00001
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)	rs933815442	0.00001
NM_000352.6(ABCC8):c.598del (p.Thr200fs)	rs1591890137
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)	rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)	rs1564977373

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