ClinVar Miner

List of variants reported as benign for hyperinsulinemic hypoglycemia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 102
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434 0.66103
NM_003051.4(SLC16A1):c.*1414C>T rs7169 0.66095
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000525.4(KCNJ11):c.*441T>C rs2285676 0.43747
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_003051.4(SLC16A1):c.*1942T>C rs9429505 0.31556
NM_003051.4(SLC16A1):c.362-21A>C rs201021807 0.26702
NM_175914.5(HNF4A):c.*1132C>T rs6130615 0.24797
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_175914.5(HNF4A):c.*392T>G rs11086926 0.13032
NM_175914.5(HNF4A):c.*2366G>C rs3212211 0.11643
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_175914.5(HNF4A):c.*305A>G rs56343153 0.04078
NM_175914.5(HNF4A):c.*242T>C rs41282030 0.04068
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_175914.5(HNF4A):c.135C>T (p.Ala45=) rs736823 0.03705
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_175914.5(HNF4A):c.*700T>C rs114764820 0.02223
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_175914.5(HNF4A):c.*1832G>A rs4812832 0.02019
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_175914.5(HNF4A):c.*2533G>A rs76705771 0.01679
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_175914.5(HNF4A):c.*155G>A rs41280258 0.01170
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
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_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_175914.5(HNF4A):c.669A>G (p.Leu223=) rs139591750 0.00425
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_000208.4(INSR):c.2946-14T>C rs138585749 0.00347
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_005327.7(HADH):c.710-845C>G rs201019894 0.00060
NM_175914.5(HNF4A):c.*7G>A rs186057842 0.00043
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005327.7(HADH):c.-34C>T rs748286204 0.00009
NM_005327.7(HADH):c.132+7G>T rs534966818 0.00005
NM_005327.7(HADH):c.324C>T (p.Ser108=) rs373153417 0.00004
NM_005327.7(HADH):c.384C>T (p.Asn128=) rs369550874 0.00004
NM_005327.7(HADH):c.795C>T (p.Val265=) rs143416676 0.00004
NM_005327.7(HADH):c.486A>G (p.Arg162=) rs377521547 0.00003
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.159A>G (p.Val53=) rs148846625 0.00001
NM_005327.7(HADH):c.579A>G (p.Thr193=) rs762771153 0.00001
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000525.4(KCNJ11):c.*62G>A rs5213
NM_000525.4(KCNJ11):c.161G>A (p.Arg54His) rs587783666
NM_005271.5(GLUD1):c.1198-9C>G rs201421730
NM_005271.5(GLUD1):c.1198-9C>T
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1647G>A (p.Val549=) rs756484571
NM_005271.5(GLUD1):c.582+18A>G
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005327.4(HADH):c.-56C>A rs770197760
NM_005327.7(HADH):c.261+16C>T rs71601073
NM_005327.7(HADH):c.264C>T (p.Ala88=) rs201324954
NM_005327.7(HADH):c.291G>T (p.Leu97=) rs552317372
NM_175914.5(HNF4A):c.*906A>C rs3212210
NM_175914.5(HNF4A):c.*906A>T rs3212210

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