ClinVar Miner

List of variants studied for Hyperinsulinemic hypoglycemia, familial, 1 by Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2977G>A (p.Ala993Thr) rs148342166 0.00003
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722 0.00002
NM_000352.6(ABCC8):c.3130_3149del (p.Thr1044fs) rs886041392

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