ClinVar Miner

List of variants in gene GJA8 studied for cataract 1 multiple types

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.804C>T (p.Leu268=) rs3766503 0.04698
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00247
NM_005267.5(GJA8):c.-33C>T rs587768589 0.00232
NM_005267.5(GJA8):c.893A>G (p.Asn298Ser) rs142376567 0.00163
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) rs150441169 0.00083
NM_005267.5(GJA8):c.385G>A (p.Val129Ile) rs142415337 0.00070
NM_005267.5(GJA8):c.994G>A (p.Glu332Lys) rs143688085 0.00048
NM_005267.5(GJA8):c.439C>T (p.Leu147=) rs145974798 0.00036
NM_005267.5(GJA8):c.1157C>T (p.Pro386Leu) rs149146673 0.00019
NM_005267.5(GJA8):c.1248G>T (p.Leu416=) rs200369834 0.00016
NM_005267.5(GJA8):c.-24A>G rs377431608 0.00014
NM_005267.5(GJA8):c.1045A>G (p.Lys349Glu) rs782505421 0.00006
NM_005267.5(GJA8):c.1096G>A (p.Val366Met) rs782056871 0.00004
NM_005267.5(GJA8):c.353C>T (p.Ala118Val) rs782306193 0.00004
NM_005267.5(GJA8):c.356G>A (p.Gly119Glu) rs200587705 0.00004
NM_005267.5(GJA8):c.183C>T (p.Cys61=) rs782213276 0.00003
NM_005267.5(GJA8):c.477C>T (p.Thr159=) rs782140553 0.00003
NM_005267.5(GJA8):c.487G>A (p.Val163Met) rs374680617 0.00003
NM_005267.5(GJA8):c.933C>T (p.Asp311=) rs587747861 0.00003
NM_005267.5(GJA8):c.58G>A (p.Val20Ile) rs782298787 0.00002
NM_005267.5(GJA8):c.1016A>T (p.Glu339Val) rs781871271 0.00001
NM_005267.5(GJA8):c.1027G>A (p.Glu343Lys) rs782817804 0.00001
NM_005267.5(GJA8):c.1069A>G (p.Thr357Ala) rs782584748 0.00001
NM_005267.5(GJA8):c.1163C>T (p.Ser388Leu) rs1453803597 0.00001
NM_005267.5(GJA8):c.1274G>C (p.Arg425Pro) rs150041151 0.00001
NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn) rs782429592 0.00001
NM_005267.5(GJA8):c.1296C>T (p.Thr432=) rs782581406 0.00001
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_005267.5(GJA8):c.317G>A (p.Arg106His) rs917690151 0.00001
NM_005267.5(GJA8):c.411C>A (p.Gly137=) rs782388266 0.00001
NM_005267.5(GJA8):c.560C>T (p.Pro187Leu) rs1368547478 0.00001
NM_005267.5(GJA8):c.665T>C (p.Met222Thr) rs782579752 0.00001
NC_000001.10:g.(?_147380063)_(147381404_?)del
NM_005267.4(GJA8):c.*26dup rs34123490
NM_005267.5(GJA8):c.*12dup rs781808729
NM_005267.5(GJA8):c.-11-4T>G rs1651864498
NM_005267.5(GJA8):c.-43A>G rs1651656949
NM_005267.5(GJA8):c.1001A>C (p.Glu334Ala)
NM_005267.5(GJA8):c.1018G>C (p.Glu340Gln)
NM_005267.5(GJA8):c.101T>C (p.Ile34Thr)
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu)
NM_005267.5(GJA8):c.10T>A (p.Trp4Arg)
NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln) rs587673409
NM_005267.5(GJA8):c.1105G>T (p.Gly369Trp) rs781881392
NM_005267.5(GJA8):c.1125del (p.Gly376fs)
NM_005267.5(GJA8):c.1125dup (p.Gly376fs)
NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) rs782314953
NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter)
NM_005267.5(GJA8):c.116C>A (p.Thr39Lys)
NM_005267.5(GJA8):c.116C>G (p.Thr39Arg)
NM_005267.5(GJA8):c.117G>A (p.Thr39=)
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) rs864309677
NM_005267.5(GJA8):c.121G>C (p.Ala41Pro)
NM_005267.5(GJA8):c.122C>T (p.Ala41Val)
NM_005267.5(GJA8):c.124G>A (p.Glu42Lys)
NM_005267.5(GJA8):c.1272C>T (p.Ser424=) rs2149016663
NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu) rs782206624
NM_005267.5(GJA8):c.12G>C (p.Trp4Cys)
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) rs80358204
NM_005267.5(GJA8):c.131T>C (p.Val44Ala)
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005267.5(GJA8):c.135G>T (p.Trp45Cys) rs983216627
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu)
NM_005267.5(GJA8):c.137G>T (p.Gly46Val)
NM_005267.5(GJA8):c.139G>A (p.Asp47Asn) rs121434643
NM_005267.5(GJA8):c.139G>C (p.Asp47His) rs121434643
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) rs80358201
NM_005267.5(GJA8):c.143A>G (p.Glu48Gly) rs2149015418
NM_005267.5(GJA8):c.145_146insCTC (p.Glu48_Gln49insPro) rs1651877337
NM_005267.5(GJA8):c.148T>C (p.Ser50Pro)
NM_005267.5(GJA8):c.150C>T (p.Ser50=)
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.151G>C (p.Asp51His) rs864309703
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) rs1307969607
NM_005267.5(GJA8):c.154T>C (p.Phe52Leu)
NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) rs1651879248
NM_005267.5(GJA8):c.166A>C (p.Thr56Pro)
NM_005267.5(GJA8):c.175C>A (p.Pro59Thr)
NM_005267.5(GJA8):c.175C>G (p.Pro59Ala)
NM_005267.5(GJA8):c.176C>G (p.Pro59Arg)
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) rs1651879427
NM_005267.5(GJA8):c.178G>A (p.Gly60Ser)
NM_005267.5(GJA8):c.178G>C (p.Gly60Arg)
NM_005267.5(GJA8):c.180C>T (p.Gly60=)
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys) rs2149015470
NM_005267.5(GJA8):c.189C>G (p.Asn63Lys)
NM_005267.5(GJA8):c.191T>C (p.Val64Ala)
NM_005267.5(GJA8):c.191T>G (p.Val64Gly)
NM_005267.5(GJA8):c.196T>C (p.Tyr66His) rs1571175950
NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser) rs1651881222
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys) rs1651881222
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
NM_005267.5(GJA8):c.201C>G (p.Asp67Glu) rs781782991
NM_005267.5(GJA8):c.205G>A (p.Ala69Thr)
NM_005267.5(GJA8):c.208T>C (p.Phe70Leu)
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
NM_005267.5(GJA8):c.217T>C (p.Ser73Pro)
NM_005267.5(GJA8):c.218C>T (p.Ser73Phe)
NM_005267.5(GJA8):c.226C>G (p.Arg76Gly)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.227G>A (p.Arg76His) rs2149015516
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)
NM_005267.5(GJA8):c.235G>C (p.Val79Leu)
NM_005267.5(GJA8):c.23_34del (p.Gly8_Leu11del)
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg) rs2149015529
NM_005267.5(GJA8):c.246C>G (p.Ile82Met)
NM_005267.5(GJA8):c.262C>A (p.Pro88Thr)
NM_005267.5(GJA8):c.262C>G (p.Pro88Ala) rs80358200
NM_005267.5(GJA8):c.262C>T (p.Pro88Ser) rs80358200
NM_005267.5(GJA8):c.263C>A (p.Pro88Gln) rs782199122
NM_005267.5(GJA8):c.263C>G (p.Pro88Arg)
NM_005267.5(GJA8):c.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.264G>C (p.Pro88=) rs1227166611
NM_005267.5(GJA8):c.266C>T (p.Ser89Phe)
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln)
NM_005267.5(GJA8):c.270G>C (p.Leu90=) rs1651886484
NM_005267.5(GJA8):c.280G>A (p.Gly94Arg)
NM_005267.5(GJA8):c.280G>C (p.Gly94Arg) rs1651887395
NM_005267.5(GJA8):c.281G>A (p.Gly94Glu) rs1651887603
NM_005267.5(GJA8):c.285C>T (p.His95=) rs886045253
NM_005267.5(GJA8):c.290T>G (p.Val97Gly)
NM_005267.5(GJA8):c.293A>C (p.His98Pro)
NM_005267.5(GJA8):c.293A>G (p.His98Arg)
NM_005267.5(GJA8):c.300C>T (p.Val100=) rs886045254
NM_005267.5(GJA8):c.302G>T (p.Arg101Leu)
NM_005267.5(GJA8):c.333G>A (p.Ala111=)
NM_005267.5(GJA8):c.367G>A (p.Gly123Ser)
NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del) rs782150699
NM_005267.5(GJA8):c.405C>T (p.Ser135=)
NM_005267.5(GJA8):c.426G>A (p.Arg142=)
NM_005267.5(GJA8):c.430_444del (p.Glu144_Leu148del)
NM_005267.5(GJA8):c.433G>T (p.Gly145Trp)
NM_005267.5(GJA8):c.460C>G (p.His154Asp)
NM_005267.5(GJA8):c.472A>C (p.Lys158Gln)
NM_005267.5(GJA8):c.473A>G (p.Lys158Arg) rs2149015799
NM_005267.5(GJA8):c.481T>G (p.Phe161Val) rs1558009685
NM_005267.5(GJA8):c.484G>A (p.Glu162Lys) rs1114167310
NM_005267.5(GJA8):c.499G>T (p.Val167Leu) rs1426006227
NM_005267.5(GJA8):c.528G>T (p.Arg176=)
NM_005267.5(GJA8):c.53C>T (p.Ser18Phe)
NM_005267.5(GJA8):c.565C>G (p.Pro189Ala)
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) rs397515627
NM_005267.5(GJA8):c.586G>A (p.Val196Met)
NM_005267.5(GJA8):c.590C>T (p.Ser197Phe)
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.593G>A (p.Arg198Gln) rs80358205
NM_005267.5(GJA8):c.595C>T (p.Pro199Ser) rs1651918704
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)
NM_005267.5(GJA8):c.602A>G (p.Glu201Gly) rs1651919374
NM_005267.5(GJA8):c.607dup (p.Thr203fs)
NM_005267.5(GJA8):c.614T>C (p.Phe205Ser)
NM_005267.5(GJA8):c.634G>T (p.Val212Leu)
NM_005267.5(GJA8):c.64G>A (p.Gly22Ser) rs2149015335
NM_005267.5(GJA8):c.64G>C (p.Gly22Arg)
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys)
NM_005267.5(GJA8):c.668A>G (p.Glu223Gly) rs2149016020
NM_005267.5(GJA8):c.670T>C (p.Leu224=) rs782211254
NM_005267.5(GJA8):c.678C>A (p.His226Gln) rs201476382
NM_005267.5(GJA8):c.67A>G (p.Arg23Gly) rs1558009094
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) rs80358203
NM_005267.5(GJA8):c.73T>C (p.Trp25Arg) rs1114167309
NM_005267.5(GJA8):c.756C>T (p.Leu252=)
NM_005267.5(GJA8):c.766dup (p.Ala256fs)
NM_005267.5(GJA8):c.773C>T (p.Ser258Phe)
NM_005267.5(GJA8):c.776C>A (p.Ser259Tyr)
NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) rs45619342
NM_005267.5(GJA8):c.829C>T (p.His277Tyr) rs1651940183
NM_005267.5(GJA8):c.839C>G (p.Pro280Arg)
NM_005267.5(GJA8):c.839C>T (p.Pro280Leu) rs1571177590
NM_005267.5(GJA8):c.855del (p.Met286fs)
NM_005267.5(GJA8):c.875T>A (p.Leu292Gln)
NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) rs886045255
NM_005267.5(GJA8):c.89dup (p.Ile31fs) rs864309684
NM_005267.5(GJA8):c.904G>A (p.Glu302Lys)
NM_005267.5(GJA8):c.92T>C (p.Ile31Thr)
NM_005267.5(GJA8):c.94T>A (p.Phe32Ile)
NM_005267.5(GJA8):c.94T>G (p.Phe32Val)
NM_005267.5(GJA8):c.978G>A (p.Val326=)
NM_005267.5(GJA8):c.97C>G (p.Arg33Gly)
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) rs587710840
NM_005267.5(GJA8):c.997G>C (p.Gly333Arg)

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