ClinVar Miner

List of variants studied for Permanent neonatal diabetes mellitus; Transient neonatal diabetes mellitus 3; Islet cell hyperplasia

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Total variants: 34
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HGVS dbSNP
NM_000525.3(KCNJ11):c.-135_-134insCT rs1554901983
NM_000525.3(KCNJ11):c.-54C>T rs1016780684
NM_000525.3(KCNJ11):c.100C>T (p.Arg34Cys) rs954727530
NM_000525.3(KCNJ11):c.1016T>G (p.Val339Gly) rs138125678
NM_000525.3(KCNJ11):c.1040G>A (p.Arg347His) rs771797701
NM_000525.3(KCNJ11):c.1064dup (p.Leu356fs) rs1337406718
NM_000525.3(KCNJ11):c.1093C>T (p.Arg365Cys) rs758749160
NM_000525.3(KCNJ11):c.1094G>A (p.Arg365His) rs750689750
NM_000525.3(KCNJ11):c.1112G>A (p.Arg371His) rs1233061680
NM_000525.3(KCNJ11):c.1138_1143dup (p.Lys381_Phe382insProLys) rs1440128889
NM_000525.3(KCNJ11):c.119G>A (p.Gly40Asp) rs1001873841
NM_000525.3(KCNJ11):c.264G>T (p.Met88Ile) rs1554901866
NM_000525.3(KCNJ11):c.290dup (p.His97fs) rs1554901854
NM_000525.3(KCNJ11):c.292G>A (p.Gly98Ser) rs1554901851
NM_000525.3(KCNJ11):c.302C>A (p.Ala101Asp) rs1014454531
NM_000525.3(KCNJ11):c.407G>A (p.Arg136His) rs1479483693
NM_000525.3(KCNJ11):c.463G>A (p.Val155Met) rs587783668
NM_000525.3(KCNJ11):c.498C>A (p.Cys166Ter) rs587783669
NM_000525.3(KCNJ11):c.527G>A (p.Arg176His) rs1266231295
NM_000525.3(KCNJ11):c.560C>T (p.Ala187Val) rs1371185696
NM_000525.3(KCNJ11):c.575G>A (p.Arg192His) rs750778014
NM_000525.3(KCNJ11):c.584G>A (p.Arg195His) rs5217
NM_000525.3(KCNJ11):c.617G>T (p.Arg206Leu) rs1554901747
NM_000525.3(KCNJ11):c.662G>A (p.Arg221His) rs768909861
NM_000525.3(KCNJ11):c.718dup (p.Met240fs) rs1554901718
NM_000525.3(KCNJ11):c.765_771dup (p.Tyr258fs) rs1554901690
NM_000525.3(KCNJ11):c.797C>T (p.Pro266Leu) rs1554901679
NM_000525.3(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753
NM_000525.3(KCNJ11):c.80G>A (p.Arg27His) rs774714794
NM_000525.3(KCNJ11):c.841_843del (p.Leu281del) rs1554901658
NM_000525.3(KCNJ11):c.853G>A (p.Val285Ile) rs149667199
NM_000525.3(KCNJ11):c.902G>A (p.Arg301His) rs74339576
NM_000525.3(KCNJ11):c.970G>A (p.Gly324Arg) rs1193170151
NM_001166290.2(KCNJ11):c.98_101CCTT[1] (p.Leu35fs) rs1554901829

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