ClinVar Miner

List of variants studied for Hyperinsulinemic hypoglycemia, familial, 1 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000352.6(ABCC8):c.3641G>A (p.Arg1214Gln) rs367850779 0.00001

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