ClinVar Miner

List of variants reported as uncertain risk allele for Hyperinsulinemic hypoglycemia by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_005327.7(HADH):c.643C>A (p.Pro215Thr) rs140413151 0.00198
NM_005327.7(HADH):c.614G>C (p.Gly205Ala) rs144699575 0.00079
NM_005327.4(HADH):c.-51delC rs574132278 0.00078
NM_005327.7(HADH):c.-115del rs537335460 0.00051
NM_005327.7(HADH):c.809C>T (p.Thr270Met) rs577954688 0.00017
NM_005327.7(HADH):c.361G>A (p.Val121Met) rs377615662 0.00006
NM_005327.7(HADH):c.47C>T (p.Ser16Phe) rs374248298 0.00003
NM_005327.7(HADH):c.479C>T (p.Thr160Ile) rs780252799 0.00002
NM_005327.7(HADH):c.171C>A (p.Asp57Glu) rs137853102 0.00001
NM_005327.7(HADH):c.266G>A (p.Gly89Asp) rs1292646768 0.00001
NM_005327.7(HADH):c.494G>A (p.Arg165Gln) rs768880930 0.00001
NM_005327.7(HADH):c.823G>A (p.Asp275Asn) rs150766162 0.00001
NM_005327.7(HADH):c.889G>A (p.Val297Ile) rs376876153 0.00001
NM_005327.7(HADH):c.740C>T (p.Ala247Val) rs1736337431

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