ClinVar Miner

List of variants in gene GJB6 studied for ectodermal dysplasia syndrome

Included ClinVar conditions (215):
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Gene type:
ClinVar version:
Total variants: 119
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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.-295-99A>C rs886050035 0.00050
NM_001110219.3(GJB6):c.6T>C (p.Asp2=) rs200415730 0.00044
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.*25C>T rs112845420 0.00025
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.781A>G (p.Ser261Gly) rs143962007 0.00014
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.631T>G (p.Cys211Gly) rs141752846 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.119C>T (p.Ala40Val) rs780320724 0.00006
NM_001110219.3(GJB6):c.518C>T (p.Pro173Leu) rs200480676 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.226C>T (p.Leu76=) rs180764573 0.00004
NM_001110219.3(GJB6):c.323G>A (p.Arg108Gln) rs771412904 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001110219.3(GJB6):c.594G>A (p.Ala198=) rs763870146 0.00004
NM_001110219.3(GJB6):c.-122T>C rs886050031 0.00003
NM_001110219.3(GJB6):c.228del (p.Trp77fs) rs751484173 0.00003
NM_001110219.3(GJB6):c.109G>A (p.Val37Met) rs761985641 0.00002
NM_001110219.3(GJB6):c.371A>G (p.Gln124Arg) rs760079142 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.179G>T (p.Cys60Phe) rs750540794 0.00001
NM_001110219.3(GJB6):c.300C>T (p.His100=) rs757592980 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.458T>C (p.Val153Ala) rs779119807 0.00001
NM_001110219.3(GJB6):c.458T>G (p.Val153Gly) rs779119807 0.00001
NM_001110219.3(GJB6):c.61G>A (p.Gly21Arg) rs751440971 0.00001
NM_001110219.3(GJB6):c.753T>G (p.Ser251Arg) rs752343828 0.00001
NM_001110219.3(GJB6):c.95G>A (p.Arg32Gln) rs766604251 0.00001
NC_000013.10:g.(?_20797176)_21105944del
NM_001110219.3(GJB6):c.*227dup rs368264636
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.111G>A (p.Val37=) rs543659673
NM_001110219.3(GJB6):c.129G>A (p.Val43=)
NM_001110219.3(GJB6):c.138C>T (p.Asp46=)
NM_001110219.3(GJB6):c.148G>C (p.Asp50His) rs1869351345
NM_001110219.3(GJB6):c.153C>T (p.Phe51=)
NM_001110219.3(GJB6):c.154G>T (p.Val52Phe)
NM_001110219.3(GJB6):c.168G>A (p.Leu56=)
NM_001110219.3(GJB6):c.16C>T (p.Leu6=)
NM_001110219.3(GJB6):c.176G>T (p.Gly59Val)
NM_001110219.3(GJB6):c.186T>C (p.Asn62=)
NM_001110219.3(GJB6):c.223C>T (p.Arg75Trp) rs2137333664
NM_001110219.3(GJB6):c.263C>T (p.Ala88Val) rs28937872
NM_001110219.3(GJB6):c.27C>T (p.Phe9=)
NM_001110219.3(GJB6):c.301G>A (p.Glu101Lys) rs571454176
NM_001110219.3(GJB6):c.301G>C (p.Glu101Gln) rs571454176
NM_001110219.3(GJB6):c.306C>G (p.Thr102=)
NM_001110219.3(GJB6):c.310C>T (p.Arg104Cys)
NM_001110219.3(GJB6):c.311G>A (p.Arg104His) rs549918398
NM_001110219.3(GJB6):c.315G>A (p.Lys105=)
NM_001110219.3(GJB6):c.320G>A (p.Arg107Lys)
NM_001110219.3(GJB6):c.326G>A (p.Gly109Glu) rs747722057
NM_001110219.3(GJB6):c.338A>G (p.Asn113Ser)
NM_001110219.3(GJB6):c.352A>G (p.Ile118Val) rs1869317427
NM_001110219.3(GJB6):c.357G>A (p.Glu119=)
NM_001110219.3(GJB6):c.380G>A (p.Arg127Gln)
NM_001110219.3(GJB6):c.427C>T (p.Arg143Ter)
NM_001110219.3(GJB6):c.428G>A (p.Arg143Gln) rs201783640
NM_001110219.3(GJB6):c.460T>A (p.Phe154Ile)
NM_001110219.3(GJB6):c.511A>T (p.Ile171Phe)
NM_001110219.3(GJB6):c.513T>A (p.Ile171=)
NM_001110219.3(GJB6):c.568G>A (p.Val190Met)
NM_001110219.3(GJB6):c.568G>T (p.Val190Leu)
NM_001110219.3(GJB6):c.569T>G (p.Val190Gly)
NM_001110219.3(GJB6):c.571T>A (p.Phe191Ile)
NM_001110219.3(GJB6):c.590C>A (p.Ser197Tyr)
NM_001110219.3(GJB6):c.593C>A (p.Ala198Glu) rs200881320
NM_001110219.3(GJB6):c.602T>C (p.Ile201Thr)
NM_001110219.3(GJB6):c.607A>C (p.Met203Leu)
NM_001110219.3(GJB6):c.617A>C (p.Asn206Thr)
NM_001110219.3(GJB6):c.63del (p.Lys22fs) rs770612890
NM_001110219.3(GJB6):c.689dup (p.Asn230fs) rs398124237
NM_001110219.3(GJB6):c.695C>A (p.Pro232His) rs752253778
NM_001110219.3(GJB6):c.711G>A (p.Lys237=)
NM_001110219.3(GJB6):c.723G>A (p.Gln241=) rs556168075
NM_001110219.3(GJB6):c.742A>G (p.Ile248Val) rs747371119
NM_001110219.3(GJB6):c.94C>T (p.Arg32Ter)

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