ClinVar Miner

List of variants studied for Cataract 1 multiple types by Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania

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ClinVar version:
Total variants: 88
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.741T>G (p.Ile247Met) rs80358202 0.00365
NM_005267.5(GJA8):c.658A>G (p.Asn220Asp) rs138140155 0.00229
NM_005267.5(GJA8):c.19C>A (p.Leu7Met) rs150441169 0.00083
NM_005267.5(GJA8):c.58G>A (p.Val20Ile) rs782298787 0.00002
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_005267.5(GJA8):c.484G>A (p.Glu162Lys) rs1114167310 0.00001
NM_005267.5(GJA8):c.1018G>C (p.Glu340Gln) rs1553242949
NM_005267.5(GJA8):c.10T>A (p.Trp4Arg) rs2524888237
NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln) rs587673409
NM_005267.5(GJA8):c.1125del (p.Gly376fs) rs782786257
NM_005267.5(GJA8):c.116C>G (p.Thr39Arg) rs2524888892
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) rs864309677
NM_005267.5(GJA8):c.121G>C (p.Ala41Pro)
NM_005267.5(GJA8):c.124G>A (p.Glu42Lys) rs2524888987
NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter) rs782660172
NM_005267.5(GJA8):c.12G>C (p.Trp4Cys) rs2524888242
NM_005267.5(GJA8):c.130G>A (p.Val44Met) rs782184691
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) rs80358204
NM_005267.5(GJA8):c.131T>C (p.Val44Ala) rs80358204
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg) rs2524889089
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.137G>T (p.Gly46Val) rs2524889140
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.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.154T>C (p.Phe52Leu) rs2524889220
NM_005267.5(GJA8):c.163A>G (p.Asn55Asp) rs1651879248
NM_005267.5(GJA8):c.166A>C (p.Thr56Pro) rs1571175899
NM_005267.5(GJA8):c.175C>A (p.Pro59Thr) rs2524889317
NM_005267.5(GJA8):c.175C>G (p.Pro59Ala) rs2524889317
NM_005267.5(GJA8):c.178G>A (p.Gly60Ser) rs2524889327
NM_005267.5(GJA8):c.178G>C (p.Gly60Arg) rs2524889327
NM_005267.5(GJA8):c.191T>G (p.Val64Gly) rs2524889379
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
NM_005267.5(GJA8):c.205G>A (p.Ala69Thr) rs1651882492
NM_005267.5(GJA8):c.208T>C (p.Phe70Leu) rs2524889489
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro) rs2524888276
NM_005267.5(GJA8):c.217T>C (p.Ser73Pro) rs2524889508
NM_005267.5(GJA8):c.218C>T (p.Ser73Phe) rs2524889513
NM_005267.5(GJA8):c.226C>G (p.Arg76Gly) rs1553242577
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.235G>C (p.Val79Leu) rs782285117
NM_005267.5(GJA8):c.23_34del (p.Gly8_Leu11del) rs2524888281
NM_005267.5(GJA8):c.262C>A (p.Pro88Thr) 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>T (p.Pro88Leu) rs782199122
NM_005267.5(GJA8):c.280G>A (p.Gly94Arg) rs1651887395
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.290T>G (p.Val97Gly) rs2524889961
NM_005267.5(GJA8):c.293A>C (p.His98Pro) rs2524889972
NM_005267.5(GJA8):c.293A>G (p.His98Arg) rs2524889972
NM_005267.5(GJA8):c.302G>T (p.Arg101Leu) rs781949456
NM_005267.5(GJA8):c.367G>A (p.Gly123Ser) rs142026480
NM_005267.5(GJA8):c.389AGA[1] (p.Lys131del) rs782150699
NM_005267.5(GJA8):c.430_444del (p.Glu144_Leu148del) rs2524891019
NM_005267.5(GJA8):c.433G>T (p.Gly145Trp) rs2524891033
NM_005267.5(GJA8):c.460C>G (p.His154Asp) rs2524891170
NM_005267.5(GJA8):c.53C>T (p.Ser18Phe) rs2524888484
NM_005267.5(GJA8):c.565C>G (p.Pro189Ala) rs2149015924
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) rs397515627
NM_005267.5(GJA8):c.586G>A (p.Val196Met) rs1553242756
NM_005267.5(GJA8):c.590C>T (p.Ser197Phe) rs2524891831
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp) rs2524891845
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) rs2524891883
NM_005267.5(GJA8):c.607dup (p.Thr203fs) rs2524891890
NM_005267.5(GJA8):c.64G>A (p.Gly22Ser) rs2149015335
NM_005267.5(GJA8):c.64G>C (p.Gly22Arg) rs2149015335
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.766dup (p.Ala256fs) rs2524892983
NM_005267.5(GJA8):c.773C>T (p.Ser258Phe) rs2524893038
NM_005267.5(GJA8):c.776C>A (p.Ser259Tyr) rs2524893052
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) rs1571177590
NM_005267.5(GJA8):c.855del (p.Met286fs) rs1553242865
NM_005267.5(GJA8):c.875T>A (p.Leu292Gln) rs886045255
NM_005267.5(GJA8):c.89dup (p.Ile31fs) rs864309684
NM_005267.5(GJA8):c.92T>C (p.Ile31Thr) rs2524888659
NM_005267.5(GJA8):c.94T>A (p.Phe32Ile) rs2524888666
NM_005267.5(GJA8):c.997G>C (p.Gly333Arg) rs587600450

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