ClinVar Miner

List of variants reported as likely pathogenic for Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia

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Total variants: 10
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HGVS dbSNP
NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530
NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.3(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.3(KCNJ11):c.359_362CCTT[1] (p.Leu122fs) rs1554901829
NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696
NM_000525.3(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) rs780957825
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576

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