ClinVar Miner

List of variants reported as uncertain significance for Hidrotic ectodermal dysplasia syndrome

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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001110219.3(GJB6):c.405G>A (p.Thr135=) rs145438428 0.00056
NM_001110219.3(GJB6):c.212T>C (p.Val71Ala) rs200172266 0.00032
NM_001110219.3(GJB6):c.60C>T (p.Ile20=) rs778513540 0.00032
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001110219.3(GJB6):c.-106G>T rs555718664 0.00027
NM_001110219.3(GJB6):c.-295-99A>C rs886050035 0.00022
NM_001110219.3(GJB6):c.680C>T (p.Thr227Met) rs199790650 0.00022
NM_001110219.3(GJB6):c.*192C>T rs761029974 0.00021
NM_001110219.3(GJB6):c.*25C>T rs112845420 0.00019
NM_001110219.3(GJB6):c.-295-192A>G rs886050036 0.00009
NM_001110219.3(GJB6):c.-33G>A rs533982140 0.00009
NM_001110219.3(GJB6):c.672A>G (p.Arg224=) rs756597598 0.00008
NM_001110219.3(GJB6):c.30C>T (p.Ile10=) rs377181573 0.00007
NM_001110219.3(GJB6):c.-296+210C>A rs886050039 0.00006
NM_001110219.3(GJB6):c.-149G>A rs886050032 0.00005
NM_001110219.3(GJB6):c.209C>T (p.Pro70Leu) rs727505123 0.00004
NM_001110219.3(GJB6):c.-122T>C rs886050031 0.00003
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.619G>A (p.Val207Met) rs146231737 0.00002
NM_001110219.3(GJB6):c.666A>G (p.Ser222=) rs138571061 0.00002
NM_001110219.3(GJB6):c.*559C>T rs886050029 0.00001
NM_001110219.3(GJB6):c.-26A>G rs886050030 0.00001
NM_001110219.3(GJB6):c.-296+283T>C rs886050037 0.00001
NM_001110219.3(GJB6):c.-3G>A rs372835743 0.00001
NM_001110219.3(GJB6):c.393G>A (p.Ser131=) rs200353369 0.00001
NM_001110219.3(GJB6):c.*628G>T rs577545882
NM_001110219.3(GJB6):c.-166A>C rs886050033
NM_001110219.3(GJB6):c.-178C>T rs886050034
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.311G>A (p.Arg104His) rs549918398
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) rs747371119

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