ClinVar Miner

List of variants reported as likely pathogenic for Familial hyperinsulinism

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Total variants: 8
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HGVS dbSNP
NM_000352.6(ABCC8):c.1562G>A (p.Arg521Gln) rs368114790
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.6(ABCC8):c.3346C>G (p.Pro1116Ala) rs1564890766
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs) rs1263082097
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met) rs149331388
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)

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