ClinVar Miner

List of variants reported as pathogenic by Molecular Genetics, Madras Diabetes Research Foundation

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569 0.00002
NM_000352.6(ABCC8):c.1330C>T (p.Gln444Ter) rs2133616750
NM_000352.6(ABCC8):c.2694G>A (p.Trp898Ter) rs2133460799
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000545.8(HNF1A):c.338G>A (p.Trp113Ter) rs2135832456
NM_000545.8(HNF1A):c.511C>G (p.Arg171Gly) rs1057520291
NM_000545.8(HNF1A):c.788G>A (p.Arg263His) rs1057520504

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