ClinVar Miner

List of variants studied for monogenic diabetes by OMIM

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NC_000008.11:g.11573132C>T rs61199332 0.06287
NM_001715.3(BLK):c.211G>A (p.Ala71Thr) rs55758736 0.01485
NM_000545.8(HNF1A):c.1720= (p.Ser574=) rs1169305 0.01390
NM_003597.5(KLF11):c.659C>T (p.Thr220Met) rs34336420 0.01310
NM_001715.3(BLK):c.*338T>G rs1042695 0.00399
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp) rs137853247 0.00076
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_003597.5(KLF11):c.1039G>T (p.Ala347Ser) rs121912645 0.00009
NM_001109809.5(ZFP57):c.743G>A (p.Arg248His) rs77625743 0.00006
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg) rs137852676 0.00004
NM_001366110.1(PAX4):c.514C>T (p.Arg172Trp) rs121917718 0.00004
NM_000207.3(INS):c.16C>T (p.Arg6Cys) rs121908278 0.00003
NM_000545.8(HNF1A):c.1592G>C (p.Ser531Thr) rs137853246 0.00002
NC_000008.11:g.11474238G>A rs886037620 0.00001
NC_000008.11:g.11564613G>T rs886037621 0.00001
NM_000352.6(ABCC8):c.134C>T (p.Pro45Leu) rs267606623 0.00001
NM_000545.8(HNF1A):c.1340C>T (p.Pro447Leu) rs137853236 0.00001
NM_001366110.1(PAX4):c.772-1G>A rs371715169 0.00001
HNF1B, 1-BP DEL
HNF1B, EX5DUP
HNF4A, 1-BP DEL, PHE75T
NG_011731.2:g.4741A>C rs2135818776
NM_000162.5(GCK):c.1015G>A (p.Glu339Lys) rs397514580
NM_000162.5(GCK):c.1132G>A (p.Ala378Thr) rs104894016
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.483+2_483+16del rs1583601110
NM_000162.5(GCK):c.629T>A (p.Met210Lys) rs80356654
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.781G>A (p.Gly261Arg) rs104894008
NM_000162.5(GCK):c.793G>T (p.Glu265Ter) rs104894011
NM_000162.5(GCK):c.835G>T (p.Glu279Ter) rs104894005
NM_000162.5(GCK):c.895G>C (p.Gly299Arg) rs104894009
NM_000207.3(INS):c.127T>G (p.Cys43Gly) rs80356666
NM_000207.3(INS):c.137G>A (p.Arg46Gln) rs121908260
NM_000207.3(INS):c.143T>G (p.Phe48Cys) rs80356668
NM_000207.3(INS):c.187+241G>A rs886041083
NM_000207.3(INS):c.265C>T (p.Arg89Cys) rs80356669
NM_000207.3(INS):c.287G>A (p.Cys96Tyr) rs80356671
NM_000207.3(INS):c.71C>A (p.Ala24Asp) rs80356663
NM_000207.3(INS):c.94G>A (p.Gly32Ser) rs80356664
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000352.6(ABCC8):c.1144G>A (p.Glu382Lys) rs80356651
NM_000352.6(ABCC8):c.1744C>G (p.Leu582Val) rs137852674
NM_000352.6(ABCC8):c.215A>G (p.Asn72Ser) rs80356634
NM_000352.6(ABCC8):c.257T>G (p.Val86Gly) rs193929360
NM_000352.6(ABCC8):c.3554C>A (p.Ser1185Tyr) rs193929369
NM_000352.6(ABCC8):c.394T>C (p.Phe132Leu) rs80356637
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys) rs137852673
NM_000352.6(ABCC8):c.4270A>G (p.Ile1424Val) rs80356653
NM_000352.6(ABCC8):c.638T>G (p.Leu213Arg) rs80356642
NM_000458.4(HNF1B):c.1055dup (p.Tyr352Ter)
NM_000458.4(HNF1B):c.301G>T (p.Glu101Ter)
NM_000458.4(HNF1B):c.410_484del (p.Arg137_Lys161del)
NM_000458.4(HNF1B):c.443C>G (p.Ser148Trp)
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
NM_000458.4(HNF1B):c.529C>T (p.Arg177Ter)
NM_000458.4(HNF1B):c.544+1G>A
NM_000458.4(HNF1B):c.544+1G>T
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
NM_000458.4(HNF1B):c.982_986del (p.Pro328fs)
NM_000525.4(KCNJ11):c.124T>C (p.Cys42Arg) rs80356610
NM_000525.4(KCNJ11):c.149G>C (p.Arg50Pro) rs80356611
NM_000525.4(KCNJ11):c.157G>A (p.Gly53Ser) rs80356613
NM_000525.4(KCNJ11):c.157G>C (p.Gly53Arg) rs80356613
NM_000525.4(KCNJ11):c.158G>A (p.Gly53Asp) rs80356615
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met) rs80356616
NM_000525.4(KCNJ11):c.176T>G (p.Val59Gly) rs80356617
NM_000525.4(KCNJ11):c.179T>A (p.Phe60Tyr) rs387906783
NM_000525.4(KCNJ11):c.497G>T (p.Cys166Phe) rs80356618
NM_000525.4(KCNJ11):c.499A>C (p.Ile167Leu) rs80356620
NM_000525.4(KCNJ11):c.509A>G (p.Lys170Arg) rs80356621
NM_000525.4(KCNJ11):c.510G>C (p.Lys170Asn) rs80356622
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys) rs80356625
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His) rs80356624
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys) rs587783672
NM_000545.8(HNF1A):c.-119del rs754470733
NM_000545.8(HNF1A):c.1333_1334del (p.Ser445fs) rs2135847417
NM_000545.8(HNF1A):c.1859C>T (p.Thr620Ile) rs137853241
NM_000545.8(HNF1A):c.335C>T (p.Pro112Leu) rs137853243
NM_000545.8(HNF1A):c.365A>G (p.Tyr122Cys) rs137853237
NM_000545.8(HNF1A):c.391C>T (p.Arg131Trp) rs137853244
NM_000545.8(HNF1A):c.587_590del (p.Thr196fs) rs2135839114
NM_000545.8(HNF1A):c.714-1G>A rs1463923467
NM_000545.8(HNF1A):c.827C>A (p.Ala276Asp) rs137853245
NM_000545.8(HNF1A):c.872dup (p.Gly292fs) rs587776825
NM_000545.8(HNF1A):c.876del (p.Pro293fs) rs2135842335
NM_001042413.2(GLIS3):c.1608C>G (p.Cys536Trp) rs879255608
NM_001042413.2(GLIS3):c.1681C>T (p.His561Tyr) rs868197660
NM_001042413.2(GLIS3):c.2338dup (p.Arg780fs) rs869320723
NM_001042413.2(GLIS3):c.932del (p.Gly311fs) rs879255609
NM_001109809.2(ZFP57):c.783C>A (p.Cys261Ter) rs61730328
NM_001109809.5(ZFP57):c.1372C>G (p.His458Asp) rs79020217
NM_001109809.5(ZFP57):c.1383del (p.Tyr462fs) rs606231122
NM_001109809.5(ZFP57):c.317_318del (p.Glu106fs) rs606231121
NM_001109809.5(ZFP57):c.829C>A (p.His277Asn) rs78378398
NM_001109809.5(ZFP57):c.898_905del (p.Gly299_Thr300insTer) rs606231123
NM_001807.6(CEL):c.1677del (p.Val560fs)
NM_001807.6(CEL):c.1776del (p.Val593fs) rs193922638
NM_002500.5(NEUROD1):c.616dup (p.His206fs) rs387906384
NM_012096.3(APPL1):c.1655T>A (p.Leu552Ter) rs869320673
NM_012096.3(APPL1):c.280G>A (p.Asp94Asn) rs796065047
NM_175914.5(HNF4A):c.1052T>G (p.Met351Arg) rs137853338
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp) rs587777732
NM_175914.5(HNF4A):c.421C>T (p.Arg141Ter) rs137853335
NM_175914.5(HNF4A):c.583-2del rs1600731198
NM_175914.5(HNF4A):c.763C>T (p.Gln255Ter) rs137853334
NM_178161.3(PTF1A):c.437_460del (p.Ala146_Arg154delinsGly)
NM_178161.3(PTF1A):c.705dup (p.Pro236fs) rs886039746
NM_178161.3(PTF1A):c.886C>T (p.Arg296Ter) rs104894186

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