List of variants reported as pathogenic for Hyperinsulinemic hypoglycemia, familial, 1 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)	rs72559715	0.00001
NM_000352.6(ABCC8):c.4478G>A (p.Arg1493Gln)	rs746480424	0.00001
NM_000352.6(ABCC8):c.3773dup (p.Val1259fs)	rs2133411551
NM_000352.6(ABCC8):c.4412-13G>A	rs1008906426
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)	rs797045213

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