ClinVar Miner

List of variants reported as likely benign for hyperinsulinism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 87
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_000525.4(KCNJ11):c.*215C>T rs5210 0.44390
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=) rs1801261 0.02724
NM_175914.5(HNF4A):c.350C>T (p.Thr117Ile) rs1800961 0.02469
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_003051.4(SLC16A1):c.*145T>G rs11585690 0.01723
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_000352.6(ABCC8):c.1158C>T (p.Asn386=) rs60824529 0.01375
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_003051.4(SLC16A1):c.*1876G>C rs11811205 0.01235
NM_003051.4(SLC16A1):c.*332T>C rs41306207 0.01211
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=) rs73419228 0.01181
NM_175914.5(HNF4A):c.*1975G>A rs140719706 0.01125
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_175914.5(HNF4A):c.*167T>A rs11574744 0.01097
NM_000352.6(ABCC8):c.2538C>T (p.His846=) rs73423037 0.01028
NM_000352.6(ABCC8):c.423G>A (p.Val141=) rs116132921 0.01009
NM_000352.6(ABCC8):c.1572G>A (p.Thr524=) rs61748766 0.00948
NM_005271.5(GLUD1):c.*852A>G rs150260124 0.00846
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_005271.5(GLUD1):c.*908T>C rs140942830 0.00817
NM_175914.5(HNF4A):c.*521G>A rs111466682 0.00755
NM_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
NM_175914.5(HNF4A):c.393T>C (p.Asn131=) rs113308087 0.00598
NM_005327.7(HADH):c.275T>G (p.Phe92Cys) rs61735992 0.00516
NM_000162.5(GCK):c.339C>T (p.Asp113=) rs149412035 0.00451
NM_175914.5(HNF4A):c.*2786C>T rs113417800 0.00435
NM_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_175914.5(HNF4A):c.696C>T (p.His232=) rs150078978 0.00365
NM_175914.5(HNF4A):c.*2656G>A rs146992858 0.00337
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_175914.5(HNF4A):c.*393G>A rs190373692 0.00267
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
NM_175914.5(HNF4A):c.744C>T (p.Asp248=) rs6031592 0.00257
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_175914.5(HNF4A):c.*568G>A rs142417840 0.00220
NM_175914.5(HNF4A):c.*785G>A rs557646293 0.00213
NM_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
NM_175914.5(HNF4A):c.*1095G>A rs192208246 0.00195
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000525.4(KCNJ11):c.1089A>G (p.Ser363=) rs5214 0.00120
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_175914.5(HNF4A):c.*3143G>T rs535731605 0.00101
NM_175914.5(HNF4A):c.*277T>C rs149998598 0.00099
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val) rs117874766 0.00097
NM_000162.5(GCK):c.*847G>A rs76374134 0.00096
NM_000162.5(GCK):c.-215A>G rs13306390 0.00065
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) rs145136257 0.00057
NM_000162.5(GCK):c.*510C>T rs141645300 0.00050
NM_003051.4(SLC16A1):c.1282G>A (p.Val428Ile) rs536012651 0.00048
NM_175914.5(HNF4A):c.138G>A (p.Thr46=) rs145845882 0.00043
NM_000162.5(GCK):c.*735C>A rs556996030 0.00038
NM_005271.5(GLUD1):c.*1379C>T rs181813972 0.00030
NM_003051.4(SLC16A1):c.*1624A>G rs140456426 0.00027
NM_175914.5(HNF4A):c.439G>A (p.Val147Ile) rs142204928 0.00025
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_175914.5(HNF4A):c.*427G>T rs144306069 0.00014
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
NM_175914.5(HNF4A):c.*2182G>A rs138556808 0.00005
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys) rs140068774 0.00004
NM_000162.5(GCK):c.-452G>A rs187173652 0.00002
NM_000162.5(GCK):c.*297T>G rs527259972 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_175914.5(HNF4A):c.1243C>T (p.Pro415Ser) rs150776703 0.00001
NM_175914.5(HNF4A):c.582+4A>G rs376287515 0.00001
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=) rs371089976
NM_003051.3(SLC16A1):c.-249C>G rs60953496
NM_005271.5(GLUD1):c.*355T>G rs569595849
NM_175914.5(HNF4A):c.*2256C>G rs537829031
NM_175914.5(HNF4A):c.*657G>A rs3212209
NM_175914.5(HNF4A):c.*76G>T rs11574743

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.