ClinVar Miner

List of variants in gene HADH, LOC129992931 studied for hyperinsulinemic hypoglycemia

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_005327.4(HADH):c.-51delC rs574132278 0.00074
NM_005327.7(HADH):c.-115del rs537335460 0.00053
NM_005327.4(HADH):c.-203A>G rs376591232 0.00049
NM_005327.4(HADH):c.-86G>T rs528952923 0.00001
NC_000004.12:g.107986495_107992009del
NM_005327.4(HADH):c.-193G>T rs10017687
NM_005327.4(HADH):c.-195A>C rs886058979
NM_005327.4(HADH):c.-195A>G rs886058979
NM_005327.4(HADH):c.-195A>T rs886058979
NM_005327.4(HADH):c.-56C>A rs770197760

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