ClinVar Miner

List of variants in gene ABCC8 reported as benign for congenital isolated hyperinsulinism

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89141
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.37032
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36267
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16638
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14090
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06595
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272

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