ClinVar Miner

List of variants studied for hyperinsulinism by OMIM

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_000352.6(ABCC8):c.560T>A (p.Val187Asp) rs137852672 0.00022
NM_000352.6(ABCC8):c.3989-9G>A rs151344623 0.00019
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196 0.00003
NM_005327.7(HADH):c.706C>T (p.Arg236Ter) rs375717077 0.00003
NC_000011.10:g.17476966G>C rs1395224084 0.00001
NM_000352.6(ABCC8):c.4477C>T (p.Arg1493Trp) rs28936371 0.00001
NM_000525.4(KCNJ11):c.761C>T (p.Pro254Leu) rs104894237 0.00001
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg) rs104894248 0.00001
NM_000525.4(KCNJ11):c.902G>A (p.Arg301His) rs74339576 0.00001
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) rs137853102 0.00001
NC_000004.12:g.107986495_107992009del
NM_000162.5(GCK):c.1363G>A (p.Val455Met) rs104894012
NM_000162.5(GCK):c.1367C>T (p.Ala456Val) rs104894014
NM_000162.5(GCK):c.271G>Y (p.Val91Leu)
NM_000162.5(GCK):c.641A>G (p.Tyr214Cys) rs104894015
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln) rs121913156
NM_000352.4:c.(?_1818)_(1923_?)del
NM_000352.6(ABCC8):c.1333-1013A>G rs980458021
NM_000352.6(ABCC8):c.1672-20A>G rs931436550
NM_000352.6(ABCC8):c.2147G>T (p.Gly716Val) rs72559723
NM_000352.6(ABCC8):c.2292-1G>A rs1564905676
NM_000352.6(ABCC8):c.4055G>C (p.Arg1352Pro) rs28936370
NM_000352.6(ABCC8):c.4154CCT[1] (p.Ser1386del) rs387906408
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4258C>T (p.Arg1420Cys) rs28938469
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln) rs387906407
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.512dup (p.Thr172fs) rs1564980510
NM_000525.4(KCNJ11):c.-134G>T rs387906398
NM_000525.4(KCNJ11):c.36C>A (p.Tyr12Ter) rs104894236
NM_000525.4(KCNJ11):c.440T>C (p.Leu147Pro) rs28936678
NM_000525.4(KCNJ11):c.466G>A (p.Gly156Arg) rs1404429785
NM_000525.4(KCNJ11):c.889ACC[1] (p.Thr298del) rs1953574433
NM_003051.3(SLC16A1):c.-391_-390insACGCCGGTCACGTGGCGGGGTGGGG rs606231172
NM_003051.4(SLC16A1):c.-202G>A rs387906403
NM_005271.5(GLUD1):c.1046A>C (p.Glu349Ala) rs121909735
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1495G>A (p.Gly499Ser) rs121909733
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp) rs121909734
NM_005271.5(GLUD1):c.1501T>C (p.Ser501Pro) rs121909732
NM_005271.5(GLUD1):c.1519C>T (p.His507Tyr) rs121909730
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys) rs56275071
NM_005271.5(GLUD1):c.953G>A (p.Arg318Lys) rs121909736
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_005327.7(HADH):c.118G>A (p.Ala40Thr) rs137853101
NM_005327.7(HADH):c.547-3_549del rs2126234459
NM_005327.7(HADH):c.636+471G>T rs786200932
NM_005327.7(HADH):c.773C>T (p.Pro258Leu) rs137853103

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