ClinVar Miner

List of variants reported as pathogenic for Permanent neonatal diabetes mellitus by Genetic Services Laboratory, University of Chicago

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000207.3(INS):c.188-31G>A rs797045623
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu) rs1554909277
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673

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