ClinVar Miner

List of variants in gene GJA8 reported as uncertain significance for Cataract 1 multiple types

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Total variants: 109
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HGVS dbSNP gnomAD frequency
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.1096G>A (p.Val366Met) rs782056871 0.00004
NM_005267.5(GJA8):c.353C>T (p.Ala118Val) rs782306193 0.00004
NM_005267.5(GJA8):c.183C>T (p.Cys61=) rs782213276 0.00003
NM_005267.5(GJA8):c.487G>A (p.Val163Met) rs374680617 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.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.317G>A (p.Arg106His) rs917690151 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
NM_005267.5(GJA8):c.-11-4T>G rs1651864498
NM_005267.5(GJA8):c.-43A>G rs1651656949
NM_005267.5(GJA8):c.1018G>C (p.Glu340Gln)
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu)
NM_005267.5(GJA8):c.10T>A (p.Trp4Arg)
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>G (p.Thr39Arg)
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) rs864309677
NM_005267.5(GJA8):c.122C>T (p.Ala41Val)
NM_005267.5(GJA8):c.124G>A (p.Glu42Lys)
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.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.137G>T (p.Gly46Val)
NM_005267.5(GJA8):c.142G>A (p.Glu48Lys) rs80358201
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.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.151G>C (p.Asp51His) rs864309703
NM_005267.5(GJA8):c.154T>C (p.Phe52Leu)
NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) rs1651879248
NM_005267.5(GJA8):c.175C>A (p.Pro59Thr)
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>G (p.Val64Gly)
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.226C>G (p.Arg76Gly)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)
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.263C>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.266C>T (p.Ser89Phe)
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln)
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.367G>A (p.Gly123Ser)
NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del) rs782150699
NM_005267.5(GJA8):c.433G>T (p.Gly145Trp)
NM_005267.5(GJA8):c.460C>G (p.His154Asp)
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.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.614T>C (p.Phe205Ser)
NM_005267.5(GJA8):c.634G>T (p.Val212Leu)
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.73T>C (p.Trp25Arg) rs1114167309
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.94T>A (p.Phe32Ile)
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) rs587710840
NM_005267.5(GJA8):c.997G>C (p.Gly333Arg)

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