ClinVar Miner

List of variants reported as benign for diazoxide-sensitive diffuse hyperinsulinism

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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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_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_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_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.-49G>C rs77498130 0.03452
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
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_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_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
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.*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_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000525.4(KCNJ11):c.*62G>A rs5213
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_005327.7(HADH):c.261+16C>T rs71601073

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