ClinVar Miner

List of variants in gene ABCC8 reported as pathogenic by Mendelics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.598del (p.Thr200fs) rs1591890137
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter) rs1564977373

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