ClinVar Miner

List of variants in gene GCK studied for congenital isolated hyperinsulinism

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 106
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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 0.00038
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.676G>A (p.Val226Met) rs148311934 0.00001
NM_000162.5(GCK):c.951C>G (p.His317Gln) rs1379908545 0.00001
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.1024A>C (p.Thr342Pro) rs1000236360
NM_000162.5(GCK):c.1120G>T (p.Val374Leu) rs1415041911
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.1262A>G (p.Glu421Gly) rs1257648811
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.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.1A>T (p.Met1Leu)
NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)
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.363+10G>C rs758495950
NM_000162.5(GCK):c.391T>C (p.Ser131Pro) rs104894010
NM_000162.5(GCK):c.469G>A (p.Glu157Lys) rs1554335570
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.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.766G>A (p.Glu256Lys) rs769268803
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.835G>C (p.Glu279Gln) rs104894005
NM_000162.5(GCK):c.871A>T (p.Lys291Ter) rs193922335

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