ClinVar Miner

List of variants reported as likely benign for hyperinsulinemic hypoglycemia by Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

Included ClinVar conditions (32):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 47
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HGVS dbSNP gnomAD frequency
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_000208.4(INSR):c.2193G>A (p.Thr731=) rs6413501 0.00350
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000208.4(INSR):c.687C>T (p.Thr229=) rs150568177 0.00111
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_000208.4(INSR):c.2793G>A (p.Ala931=) rs111502197 0.00088
NM_005327.7(HADH):c.*377G>A rs148809781 0.00084
NM_005327.7(HADH):c.*600C>T rs544321475 0.00077
NM_005327.7(HADH):c.*168A>T rs532458283 0.00062
NM_000208.4(INSR):c.2295C>T (p.Gly765=) rs142654992 0.00058
NM_005327.4(HADH):c.-203A>G rs376591232 0.00049
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_000208.4(INSR):c.225C>T (p.Asp75=) rs41352749 0.00011
NM_005327.7(HADH):c.*142G>A rs560215584 0.00011
NM_005327.7(HADH):c.827-10C>T rs372610846 0.00011
NM_000208.4(INSR):c.2829C>T (p.Tyr943=) rs376766937 0.00008
NM_005327.7(HADH):c.*305T>A rs3822294 0.00008
NM_005327.7(HADH):c.240G>A (p.Lys80=) rs748623569 0.00008
NM_005327.7(HADH):c.*335C>A rs780532720 0.00006
NM_005327.7(HADH):c.*59G>A rs529762487 0.00004
NM_005327.7(HADH):c.710-14C>T rs185267497 0.00004
NM_005327.7(HADH):c.820G>A (p.Val274Met) rs543440046 0.00004
NM_000208.4(INSR):c.624A>G (p.Arg208=) rs759705666 0.00001
NM_005327.4(HADH):c.-86G>T rs528952923 0.00001
NM_005327.7(HADH):c.*279C>A rs1290272212 0.00001
NM_005327.7(HADH):c.*383G>C rs550706321 0.00001
NM_005327.7(HADH):c.-36C>T rs746854470 0.00001
NM_005327.7(HADH):c.72G>A (p.Lys24=) rs781319494 0.00001
NM_005327.4(HADH):c.-193G>T rs10017687
NM_005327.4(HADH):c.-195A>T rs886058979
NM_005327.7(HADH):c.*660_*661del
NM_005327.7(HADH):c.132+6C>G rs772843585
NM_005327.7(HADH):c.21G>A (p.Gln7=) rs886058980
NM_005327.7(HADH):c.825T>G (p.Asp275Glu) rs1736344235

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