ClinVar Miner

List of variants studied for maturity-onset diabetes of the young by OMIM

Included ClinVar conditions (40):
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Minimum conflict level:
ClinVar version:
Total variants: 66
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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_175914.5(HNF4A):c.340C>T (p.Arg114Trp) rs137853336 0.00006
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_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.137G>A (p.Arg46Gln) rs121908260
NM_000209.4(PDX1):c.188del (p.Pro63fs) rs193929377
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
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.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_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

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