ClinVar Miner

List of variants reported as likely pathogenic for Neonatal diabetes mellitus

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Total variants: 13
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HGVS dbSNP
NM_000207.3(INS):c.71C>T (p.Ala24Val) rs80356663
NM_000352.5(ABCC8):c.1606T>C (p.Phe536Leu) rs193922396
NM_000352.5(ABCC8):c.1616A>G (p.Tyr539Cys) rs193922397
NM_000352.5(ABCC8):c.3517G>A (p.Val1173Met) rs141322087
NM_000352.5(ABCC8):c.3542T>G (p.Phe1181Cys) rs193922399
NM_000352.5(ABCC8):c.3545G>A (p.Arg1182Gln) rs193922400
NM_000352.5(ABCC8):c.4136G>T (p.Arg1379Leu) rs193922401
NM_000352.5(ABCC8):c.4368C>G (p.Ile1456Met) rs193922403
NM_000352.5(ABCC8):c.4553T>G (p.Ile1518Ser) rs193922406
NM_000352.5(ABCC8):c.4564G>A (p.Val1522Met) rs193922407
NM_000352.5(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000525.3(KCNJ11):c.149G>A (p.Arg50Gln) rs80356611
NM_000525.3(KCNJ11):c.5T>C (p.Leu2Pro) rs193922565

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