ClinVar Miner

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

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 54
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HGVS dbSNP gnomAD frequency
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.1040G>A (p.Gly347Glu)
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.122C>T (p.Ala41Val)
NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu) rs782206624
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>C (p.Asp51His) rs864309703
NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) rs1651879248
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys) rs2149015470
NM_005267.5(GJA8):c.189C>G (p.Asn63Lys)
NM_005267.5(GJA8):c.201C>G (p.Asp67Glu) rs781782991
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg)
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg) rs2149015529
NM_005267.5(GJA8):c.246C>G (p.Ile82Met)
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.285C>T (p.His95=) rs886045253
NM_005267.5(GJA8):c.300C>T (p.Val100=) rs886045254
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.499G>T (p.Val167Leu) rs1426006227
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.839C>T (p.Pro280Leu) rs1571177590
NM_005267.5(GJA8):c.875T>C (p.Leu292Pro) rs886045255
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) rs587710840

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