ClinVar Miner

List of variants reported as likely pathogenic for type 2 diabetes mellitus by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (37):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006005.3(WFS1):c.1673G>A (p.Arg558His) rs774265764 0.00005
NM_000352.6(ABCC8):c.62T>A (p.Val21Asp) rs200670692 0.00004
NM_006005.3(WFS1):c.2149G>A (p.Glu717Lys) rs71532863 0.00004
NM_006005.3(WFS1):c.2293del (p.Cys765fs) rs1381011685 0.00004
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_006005.3(WFS1):c.2654C>T (p.Pro885Leu) rs372855769 0.00002
NM_000352.6(ABCC8):c.1332G>T (p.Gln444His) rs760062120 0.00001
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp) rs797045209 0.00001
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402 0.00001
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715 0.00001
NM_000352.6(ABCC8):c.742C>T (p.Arg248Ter) rs72559730 0.00001
NM_000352.6(ABCC8):c.928G>A (p.Asp310Asn) rs769569410 0.00001
NM_000525.4(KCNJ11):c.101G>A (p.Arg34His) rs141145502 0.00001
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274 0.00001
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met) rs780957825 0.00001
NM_000545.8(HNF1A):c.1556C>T (p.Pro519Leu) rs749673816 0.00001
NM_006005.3(WFS1):c.1096C>T (p.Gln366Ter) rs761320763 0.00001
NM_006005.3(WFS1):c.1619G>A (p.Trp540Ter) rs1335076773 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_175914.5(HNF4A):c.322G>A (p.Val108Ile) rs377476335 0.00001
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000340.2(SLC2A2):c.156_181dup (p.Ile61fs) rs1447936042
NM_000352.6(ABCC8):c.1647del (p.Ile550fs) rs2133554613
NM_000352.6(ABCC8):c.290+2T>C rs1554948310
NM_000352.6(ABCC8):c.338C>T (p.Ala113Val) rs2133711315
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.45C>G (p.Tyr15Ter) rs758231286
NM_000458.4(HNF1B):c.1130_1131del (p.Ser377fs) rs2147473703
NM_000458.4(HNF1B):c.634C>T (p.Gln212Ter) rs2147553451
NM_000458.4(HNF1B):c.865A>G (p.Asn289Asp)
NM_000545.8(HNF1A):c.1136C>A (p.Pro379His) rs371717826
NM_000545.8(HNF1A):c.1310-2A>G rs2135847311
NM_000545.8(HNF1A):c.818AAG[2] (p.Glu275del) rs1288094664
NM_006005.3(WFS1):c.1543TTC[1] (p.Phe516del) rs777904670
NM_006005.3(WFS1):c.1611_1624del (p.Cys537_Glu542delinsTer) rs1560419631
NM_006005.3(WFS1):c.1692CCTCTT[1] (p.565LF[1]) rs797046113
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs) rs1560422383
NM_006005.3(WFS1):c.387G>A (p.Trp129Ter) rs764993824
NM_175914.5(HNF4A):c.427-1G>A rs1568731279
NM_175914.5(HNF4A):c.691C>T (p.Arg231Trp) rs376013528
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.