ClinVar Miner

List of variants reported for Neonatal diabetes mellitus by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.1154C>G (p.Ser385Cys) rs41282930 0.00987
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_000352.6(ABCC8):c.4412-14C>T rs193922404 0.00016
NM_000352.6(ABCC8):c.2117-12C>A rs193922398 0.00004
NM_000525.4(KCNJ11):c.54A>G (p.Ala18=) rs193922564 0.00004
NM_000209.4(PDX1):c.216C>T (p.Pro72=) rs193922353 0.00001
NM_000162.5(GCK):c.45+11C>G rs193922298
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.71C>T (p.Ala24Val) rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu) rs193922396
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys) rs193922399
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.6(ABCC8):c.394T>G (p.Phe132Val) rs80356637
NM_000352.6(ABCC8):c.413-5G>A rs186946111
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser) rs193922406
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met) rs193922407
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro) rs193922565

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