ClinVar Miner

List of variants in gene ABCC8 reported as likely benign for Hereditary hyperinsulinism

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000352.6(ABCC8):c.945C>T (p.Ala315=) rs138521721 0.00173
NM_000352.6(ABCC8):c.3345G>A (p.Thr1115=) rs186634115 0.00017
NM_000352.6(ABCC8):c.3039G>A (p.Ser1013=) rs17846762 0.00009
NM_000352.6(ABCC8):c.4116G>A (p.Gln1372=) rs562715858 0.00008
NM_000352.6(ABCC8):c.3099G>A (p.Leu1033=) rs200693100 0.00007
NM_000352.6(ABCC8):c.1368C>T (p.Leu456=) rs775001123 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000352.6(ABCC8):c.4239G>T (p.Pro1413=) rs373478721 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000352.6(ABCC8):c.4703G>A (p.Arg1568Gln) rs374743072 0.00004
NM_000352.6(ABCC8):c.495G>A (p.Ser165=) rs369136858 0.00004
NM_000352.6(ABCC8):c.2235C>T (p.Ser745=) rs200708414 0.00003
NM_000352.6(ABCC8):c.2178A>G (p.Ala726=) rs747902103 0.00002
NM_000352.6(ABCC8):c.1818-7C>T rs17846731 0.00001
NM_000352.6(ABCC8):c.3393C>T (p.Ile1131=) rs776975807 0.00001
NM_000352.6(ABCC8):c.1716G>T (p.Ser572=) rs750619309
NM_000352.6(ABCC8):c.2163G>A (p.Ser721=) rs201724038
NM_000352.6(ABCC8):c.3309G>T (p.Arg1103=) rs1321810156
NM_000352.6(ABCC8):c.4140C>T (p.Thr1380=) rs574684578
NM_000352.6(ABCC8):c.4239G>A (p.Pro1413=) rs373478721

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