ClinVar Miner

List of variants in gene SLC16A1 studied for diazoxide-sensitive diffuse hyperinsulinism

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434 0.66103
NM_003051.4(SLC16A1):c.*1414C>T rs7169 0.66095
NM_003051.4(SLC16A1):c.*1942T>C rs9429505 0.31556
NM_003051.4(SLC16A1):c.362-21A>C rs201021807 0.26702
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_003051.4(SLC16A1):c.973A>G (p.Ile325Val) rs116216229 0.00409
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_003051.4(SLC16A1):c.-92G>T rs144301005 0.00214
NM_003051.4(SLC16A1):c.*629C>T rs540946001 0.00189
NM_003051.4(SLC16A1):c.*948G>A rs543171131 0.00129
NM_003051.4(SLC16A1):c.*104C>T rs182505461 0.00128
NM_003051.4(SLC16A1):c.*1654A>G rs761298128 0.00056
NM_003051.4(SLC16A1):c.*516C>G rs754537571 0.00048
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_003051.4(SLC16A1):c.441C>T (p.Asn147=) rs150246870 0.00031
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser) rs77373295 0.00029
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_003051.4(SLC16A1):c.1367A>T (p.Glu456Val) rs554138665 0.00021
NM_003051.4(SLC16A1):c.*603T>C rs527658261 0.00011
NM_003051.4(SLC16A1):c.*1801A>G rs750135904 0.00010
NM_003051.4(SLC16A1):c.*946G>A rs867810008 0.00006
NM_003051.4(SLC16A1):c.*657C>A rs911644501 0.00005
NM_003051.4(SLC16A1):c.*77C>T rs868304120 0.00004
NM_003051.4(SLC16A1):c.*1312G>C rs886045059 0.00003
NM_003051.4(SLC16A1):c.1117G>A (p.Val373Ile) rs200802632 0.00003
NM_003051.4(SLC16A1):c.1342T>C (p.Leu448=) rs773196238 0.00003
NM_003051.4(SLC16A1):c.1281C>T (p.Gly427=) rs779279429 0.00002
NM_003051.4(SLC16A1):c.*1018T>G rs774371594 0.00001
NM_003051.4(SLC16A1):c.*1134G>A rs778106916 0.00001
NM_003051.4(SLC16A1):c.*137A>T rs1223206132 0.00001
NM_003051.4(SLC16A1):c.*815G>A rs556305447 0.00001
NM_003051.4(SLC16A1):c.-87C>T rs886045087 0.00001
NM_003051.4(SLC16A1):c.1345G>A (p.Ala449Thr) rs756006376 0.00001
NM_003051.4(SLC16A1):c.1452G>A (p.Pro484=) rs17852382 0.00001
NM_003051.4(SLC16A1):c.295G>A (p.Gly99Ser) rs1461742764 0.00001
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr) rs1570620206 0.00001
NM_003051.4(SLC16A1):c.540T>C (p.Ile180=) rs775755027 0.00001
NM_003051.4(SLC16A1):c.680A>G (p.His227Arg) rs549501840 0.00001
NM_003051.4(SLC16A1):c.*1044T>G rs1190989254
NM_003051.4(SLC16A1):c.*1051G>A rs886045064
NM_003051.4(SLC16A1):c.*1064G>T rs886045063
NM_003051.4(SLC16A1):c.*1071T>C rs1648368024
NM_003051.4(SLC16A1):c.*1072G>T rs886045062
NM_003051.4(SLC16A1):c.*361G>T rs1407575522
NM_003051.4(SLC16A1):c.*739T>C rs570060559
NM_003051.4(SLC16A1):c.*739T>G rs570060559
NM_003051.4(SLC16A1):c.1228+6G>A rs190615745
NM_003051.4(SLC16A1):c.1430T>C (p.Val477Ala) rs886045067
NM_003051.4(SLC16A1):c.328C>T (p.Gln110Ter) rs1570623881
NM_003051.4(SLC16A1):c.362-58TATT[8] rs149491709
NM_003051.4(SLC16A1):c.489C>A (p.Pro163=) rs145916504
NM_003051.4(SLC16A1):c.508G>A (p.Gly170Ser) rs200143982
NM_003051.4(SLC16A1):c.527G>A (p.Gly176Glu) rs766830652
NM_003051.4(SLC16A1):c.72T>A (p.Ile24=) rs760137043
NM_003051.4(SLC16A1):c.785G>C (p.Gly262Ala)
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter) rs606231310
NM_003051.4(SLC16A1):c.983G>T (p.Arg328Leu) rs774823539

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.