ClinVar Miner

List of variants studied for hyperinsulinism due to glucokinase deficiency

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 149
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000162.5(GCK):c.954G>C (p.Gly318=) rs145764627 0.00287
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_000162.5(GCK):c.*356G>A rs146107173 0.00247
NM_000162.5(GCK):c.333C>T (p.Pro111=) rs61736250 0.00235
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_000162.5(GCK):c.-455A>G rs140894490 0.00101
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_000162.5(GCK):c.-453C>T rs191795044 0.00049
NM_000162.5(GCK):c.483+26C>A rs142668032 0.00048
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000162.5(GCK):c.46-5598A>T rs13306393 0.00046
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_000162.5(GCK):c.*764C>T rs185418856 0.00037
NM_000162.5(GCK):c.208+17G>A rs199822205 0.00024
NM_000162.5(GCK):c.-102G>A rs781377703 0.00023
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000162.5(GCK):c.363+9C>T rs200985182 0.00011
NM_000162.5(GCK):c.649G>A (p.Asp217Asn) rs147065275 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000162.5(GCK):c.393C>T (p.Ser131=) rs139139350 0.00009
NM_000162.5(GCK):c.9C>T (p.Asp3=) rs142553382 0.00009
NM_000162.5(GCK):c.363+10G>A rs758495950 0.00006
NM_000162.5(GCK):c.270G>A (p.Lys90=) rs571528578 0.00005
NM_000162.5(GCK):c.*678G>T rs555058443 0.00004
NM_000162.5(GCK):c.646G>A (p.Glu216Lys) rs778550411 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000162.5(GCK):c.836A>G (p.Glu279Gly) rs143484733 0.00004
NM_000162.5(GCK):c.-279C>T rs997877536 0.00003
NM_000162.5(GCK):c.142G>A (p.Glu48Lys) rs759514960 0.00003
NM_000162.5(GCK):c.301G>A (p.Val101Met) rs762922697 0.00003
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.10G>A (p.Asp4Asn) rs202091228 0.00002
NM_000162.5(GCK):c.394G>A (p.Asp132Asn) rs762419802 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000162.5(GCK):c.483+3G>A rs1311596702 0.00002
NM_000162.5(GCK):c.784G>A (p.Asp262Asn) rs779460424 0.00002
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.*723A>G rs886062345 0.00001
NM_000162.5(GCK):c.-449G>A rs1375544246 0.00001
NM_000162.5(GCK):c.107G>A (p.Arg36Gln) rs193922261 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
NM_000162.5(GCK):c.1386G>T (p.Met462Ile) rs193922285 0.00001
NM_000162.5(GCK):c.415A>T (p.Met139Leu) rs368137186 0.00001
NM_000162.5(GCK):c.571C>T (p.Arg191Trp) rs1085307455 0.00001
NM_000162.5(GCK):c.580-11C>T rs370016334 0.00001
NM_000162.5(GCK):c.609G>A (p.Val203=) rs776703291 0.00001
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.716A>G (p.Gln239Arg) rs764146649 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
NM_000162.5(GCK):c.*12G>A
NM_000162.5(GCK):c.*270C>T rs886062348
NM_000162.5(GCK):c.*548G>A rs886062347
NM_000162.5(GCK):c.*721C>T rs886062346
NM_000162.5(GCK):c.*844A>C rs886062344
NM_000162.5(GCK):c.-102G>C rs781377703
NM_000162.5(GCK):c.-137C>G rs2096324530
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000162.5(GCK):c.-396C>G rs2096324894
NM_000162.5(GCK):c.-456G>A rs757266656
NM_000162.5(GCK):c.1006T>A (p.Ser336Thr)
NM_000162.5(GCK):c.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1024A>T (p.Thr342Ser)
NM_000162.5(GCK):c.1045T>A (p.Tyr349Asn)
NM_000162.5(GCK):c.1058G>A (p.Ser353Asn)
NM_000162.5(GCK):c.1102C>T (p.Arg368Cys)
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) rs1415041911
NM_000162.5(GCK):c.1142T>A (p.Met381Lys) rs193922266
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1155del (p.Leu386fs) rs1400535021
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.5(GCK):c.122_123insAGGAGATG (p.Met41fs)
NM_000162.5(GCK):c.1230C>T (p.Gly410=)
NM_000162.5(GCK):c.1234G>A (p.Val412Met)
NM_000162.5(GCK):c.1241A>T (p.Lys414Met)
NM_000162.5(GCK):c.1253+3G>T rs911506580
NM_000162.5(GCK):c.1253+5G>T
NM_000162.5(GCK):c.1253+6C>T
NM_000162.5(GCK):c.1262A>G (p.Glu421Gly) rs1257648811
NM_000162.5(GCK):c.1274C>A (p.Ala425Asp)
NM_000162.5(GCK):c.127C>T (p.Arg43Cys) rs1486280029
NM_000162.5(GCK):c.12_13del (p.Asp4fs)
NM_000162.5(GCK):c.130G>A (p.Gly44Ser) rs267601516
NM_000162.5(GCK):c.1310C>T (p.Thr437Ile) rs1185622190
NM_000162.5(GCK):c.1340G>A (p.Arg447Gln) rs1131691416
NM_000162.5(GCK):c.1340G>C (p.Arg447Pro) rs1131691416
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu) rs193922283
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) rs1554334433
NM_000162.5(GCK):c.1363G>A (p.Val455Met) rs104894012
NM_000162.5(GCK):c.1367C>T (p.Ala456Val) rs104894014
NM_000162.5(GCK):c.1368del (p.Cys457fs)
NM_000162.5(GCK):c.184G>A (p.Val62Met) rs1064793998
NM_000162.5(GCK):c.1A>T (p.Met1Leu)
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
NM_000162.5(GCK):c.237G>A (p.Leu79=)
NM_000162.5(GCK):c.269A>C (p.Lys90Thr) rs2128822695
NM_000162.5(GCK):c.271G>Y (p.Val91Leu)
NM_000162.5(GCK):c.278A>C (p.Glu93Ala)
NM_000162.5(GCK):c.28G>A (p.Ala10Thr)
NM_000162.5(GCK):c.315C>A (p.His105Gln)
NM_000162.5(GCK):c.343A>G (p.Met115Val)
NM_000162.5(GCK):c.363+10G>C rs758495950
NM_000162.5(GCK):c.364-14C>T
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.46-3C>T
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
NM_000162.5(GCK):c.483+117T>C
NM_000162.5(GCK):c.483+13G>A
NM_000162.5(GCK):c.49G>C (p.Glu17Gln)
NM_000162.5(GCK):c.53A>G (p.Gln18Arg)
NM_000162.5(GCK):c.544G>A (p.Val182Met) rs587780345
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000162.5(GCK):c.608T>C (p.Val203Ala) rs1562717053
NM_000162.5(GCK):c.629T>C (p.Met210Thr) rs80356654
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) rs104894015
NM_000162.5(GCK):c.660C>A (p.Cys220Ter) rs142952813
NM_000162.5(GCK):c.667G>A (p.Gly223Ser) rs1360415315
NM_000162.5(GCK):c.675C>T (p.Ile225=) rs772754004
NM_000162.5(GCK):c.680-14G>C rs577968084
NM_000162.5(GCK):c.683C>T (p.Thr228Met) rs80356655
NM_000162.5(GCK):c.692A>T (p.Asn231Ile)
NM_000162.5(GCK):c.748C>T (p.Arg250Cys) rs1057524904
NM_000162.5(GCK):c.766G>A (p.Glu256Lys) rs769268803
NM_000162.5(GCK):c.790G>A (p.Gly264Ser) rs193929373
NM_000162.5(GCK):c.792C>A (p.Gly264=) rs754094813
NM_000162.5(GCK):c.793G>A (p.Glu265Lys) rs104894011
NM_000162.5(GCK):c.800dup (p.Asp267fs)
NM_000162.5(GCK):c.835G>C (p.Glu279Gln) rs104894005
NM_000162.5(GCK):c.863+1G>A rs1376796469
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335
NM_000162.5(GCK):c.907C>A (p.Arg303=)
NM_000162.5(GCK):c.917T>G (p.Leu306Arg) rs193922337
NM_000162.5(GCK):c.954G>T (p.Gly318=)
NM_000162.5(GCK):c.988T>G (p.Phe330Val)
NM_000162.5(GCK):c.996_997delinsTT (p.Arg333Cys)

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.