ClinVar Miner

List of variants in gene GCK reported as likely benign for carbohydrate metabolism disease

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 67
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HGVS dbSNP gnomAD frequency
NM_000162.5(GCK):c.46-5883dup rs61641319 0.99994
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.660C>T (p.Cys220=) rs142952813 0.00109
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.*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.208+17G>A rs199822205 0.00024
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000162.5(GCK):c.1288C>T (p.Leu430=) rs193922276 0.00013
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.1068G>T (p.Gly356=) rs369103069 0.00004
NM_000162.5(GCK):c.834C>T (p.Asp278=) rs200071687 0.00004
NM_000162.5(GCK):c.138G>A (p.Arg46=) rs550111033 0.00003
NM_000162.5(GCK):c.198A>G (p.Pro66=) rs377410513 0.00003
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.1285A>C (p.Arg429=) rs140672134 0.00002
NM_000162.5(GCK):c.435C>G (p.Pro145=) rs773281783 0.00002
NM_000162.5(GCK):c.849C>T (p.Asn283=) rs199851776 0.00002
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_000162.5(GCK):c.1248C>T (p.His416=) rs766653778 0.00001
NM_000162.5(GCK):c.1253+12C>T rs768491249 0.00001
GCK:c.864-159_864-149del rs386134235
NM_000162.5(GCK):c.1020-10C>T rs193922257
NM_000162.5(GCK):c.1086C>T (p.Thr362=)
NM_000162.5(GCK):c.1137G>A (p.Ala379=)
NM_000162.5(GCK):c.115_117del (p.Lys39del) rs2096283216
NM_000162.5(GCK):c.1161G>C (p.Ala387=)
NM_000162.5(GCK):c.117G>A (p.Lys39=) rs193922270
NM_000162.5(GCK):c.1182C>T (p.Arg394=)
NM_000162.5(GCK):c.1233C>G (p.Ser411=) rs755112715
NM_000162.5(GCK):c.1317C>T (p.Ile439=) rs1554334455
NM_000162.5(GCK):c.132C>T (p.Gly44=)
NM_000162.5(GCK):c.1359G>T (p.Ser453=)
NM_000162.5(GCK):c.1389G>A (p.Leu463=)
NM_000162.5(GCK):c.1A>T (p.Met1Leu)
NM_000162.5(GCK):c.264G>A (p.Leu88=)
NM_000162.5(GCK):c.300C>T (p.Ser100=)
NM_000162.5(GCK):c.360G>A (p.Glu120=)
NM_000162.5(GCK):c.447C>T (p.Thr149=)
NM_000162.5(GCK):c.450C>T (p.Phe150=) rs193922299
NM_000162.5(GCK):c.46-5907_46-5906dup rs60650959
NM_000162.5(GCK):c.525A>G (p.Gly175=)
NM_000162.5(GCK):c.534G>A (p.Gly178=)
NM_000162.5(GCK):c.556C>A (p.Arg186=)
NM_000162.5(GCK):c.579+12C>G rs202001955
NM_000162.5(GCK):c.580-13T>C rs1386067636
NM_000162.5(GCK):c.723G>A (p.Val241=) rs193922324
NM_000162.5(GCK):c.726G>A (p.Glu242=) rs373582283
NM_000162.5(GCK):c.756C>T (p.Cys252=)
NM_000162.5(GCK):c.909G>T (p.Arg303=) rs1583594459
NM_000162.5(GCK):c.921C>G (p.Leu307=)

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