ClinVar Miner

List of variants reported as likely benign for diazoxide-sensitive diffuse hyperinsulinism by Illumina Laboratory Services, Illumina

Included ClinVar conditions (23):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 62
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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_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_005327.4(HADH):c.-65G>A rs28703310 0.01115
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_000162.5(GCK):c.645C>T (p.Tyr215=) rs144723656 0.00682
NM_003051.4(SLC16A1):c.1002G>A (p.Ala334=) rs114731222 0.00609
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_000162.5(GCK):c.618G>A (p.Thr206=) rs142817246 0.00400
NM_000162.5(GCK):c.*92C>A rs557990162 0.00389
NM_005271.5(GLUD1):c.*972G>A rs12980 0.00335
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_003051.4(SLC16A1):c.*1281T>G rs184445532 0.00263
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_005271.5(GLUD1):c.*1282G>C rs181931207 0.00208
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_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_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_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys) rs202189540 0.00006
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_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

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