ClinVar Miner

List of variants in gene ABCC8 reported as likely pathogenic for Familial hyperinsulinism

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Total variants: 7
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NM_000352.5(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_000352.5(ABCC8):c.2222+1G>T rs1554923999
NM_000352.5(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.5(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.5(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.5(ABCC8):c.4051G>A (p.Val1351Met)
NM_000352.5(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676

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