ClinVar Miner

List of variants studied for Hyperinsulinemic hypoglycemia, familial, 1 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 11p15.1(chr11:17448546-17453841)x3
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly) rs1955658642
NM_000352.6(ABCC8):c.2522G>A (p.Arg841Gln) rs547150342
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671

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