ClinVar Miner

List of variants in gene GJB6 studied for Hidrotic ectodermal dysplasia syndrome

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_001110219.3(GJB6):c.*337G>T rs7333214 0.23835
NM_001110219.3(GJB6):c.*301G>C rs112723181 0.02132
NM_001110219.3(GJB6):c.-105T>A rs114639494 0.01720
NM_001110219.3(GJB6):c.-295-219G>A rs7333727 0.01403
NM_001110219.3(GJB6):c.-295-210G>A rs61058739 0.00821
NM_001110219.3(GJB6):c.*714C>T rs76179836 0.00656
NM_001110219.3(GJB6):c.-296+269G>A rs142230271 0.00523
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_001110219.3(GJB6):c.-295-100C>T rs55901410 0.00153
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569 0.00120
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001110219.3(GJB6):c.*613T>G rs41292217 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001110219.3(GJB6):c.-295-227C>T rs138547643 0.00066
NM_001110219.3(GJB6):c.-295-129G>A rs539881427 0.00063
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.480G>A (p.Gly160=) rs145762940 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.396G>A (p.Leu132=) rs189971962 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.-295-278G>A rs573703525 0.00001
NM_001110219.3(GJB6):c.-296+283T>C rs886050037 0.00001
NM_001110219.3(GJB6):c.-35T>A rs534287605 0.00001
NM_001110219.3(GJB6):c.-3G>A rs372835743 0.00001
NM_001110219.3(GJB6):c.31G>A (p.Gly11Arg) rs104894415 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.-295-208G>A rs142299925
NM_001110219.3(GJB6):c.-296+265C>T rs886050038
NM_001110219.3(GJB6):c.110T>A (p.Val37Glu) rs104894416
NM_001110219.3(GJB6):c.148G>C (p.Asp50His) rs1869351345
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
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.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) rs747371119

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