List of variants reported as likely pathogenic for Familial hyperinsulinism by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)	rs137852676	0.00004
NM_000352.6(ABCC8):c.1671+1G>C	rs1057516509	0.00001
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)	rs541269678	0.00001
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)	rs1462559571	0.00001
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)	rs1201126343	0.00001
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
NM_000352.6(ABCC8):c.1630+1G>A
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)	rs1382448285
NM_000352.6(ABCC8):c.3400-1G>A	rs576684889
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)	rs1263082097
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)	rs2133400786
NM_000352.6(ABCC8):c.580-2A>G
NM_000352.6(ABCC8):c.805del (p.Ala269fs)	rs1564976749

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