List of variants in gene ABCC8 studied for Leucine-induced hypoglycemia

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

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HGVS	dbSNP	gnomAD frequency
NM_000352.6(ABCC8):c.2256-50T>C	rs4148626	0.89459
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	0.36733
NM_000352.6(ABCC8):c.4609-40A>G	rs1109591	0.36421
NM_000352.6(ABCC8):c.4119+93G>T	rs4148644	0.21307
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=)	rs1799858	0.16150
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)	rs1805036	0.14682
NM_000352.6(ABCC8):c.4120-19C>T	rs1800853	0.01325
NM_000352.6(ABCC8):c.3062_3065dup (p.Lys1022fs)
NM_000352.6(ABCC8):c.3454G>A (p.Ala1152Thr)	rs1954422814
NM_000352.6(ABCC8):c.4055G>A (p.Arg1352His)	rs28936370

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