ClinVar Miner

List of variants studied for cataract by Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania

Included ClinVar conditions (65):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 142
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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 0.00247
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_021954.4(GJA3):c.563A>G (p.Asn188Ser) rs140332366 0.00001
NM_021954.4(GJA3):c.84G>A (p.Val28=) rs531379398 0.00001
NM_005267.5(GJA8):c.1018G>C (p.Glu340Gln)
NM_005267.5(GJA8):c.10T>A (p.Trp4Arg)
NM_005267.5(GJA8):c.1102G>C (p.Glu368Gln) rs587673409
NM_005267.5(GJA8):c.1125del (p.Gly376fs)
NM_005267.5(GJA8):c.116C>G (p.Thr39Arg)
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) rs864309677
NM_005267.5(GJA8):c.124G>A (p.Glu42Lys)
NM_005267.5(GJA8):c.1273C>T (p.Arg425Ter)
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.136G>A (p.Gly46Arg) rs1553242554
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.151G>A (p.Asp51Asn) 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.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.178G>A (p.Gly60Ser)
NM_005267.5(GJA8):c.178G>C (p.Gly60Arg)
NM_005267.5(GJA8):c.191T>G (p.Val64Gly)
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
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.235G>C (p.Val79Leu)
NM_005267.5(GJA8):c.23_34del (p.Gly8_Leu11del)
NM_005267.5(GJA8):c.262C>A (p.Pro88Thr)
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)
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)
NM_005267.5(GJA8):c.293A>C (p.His98Pro)
NM_005267.5(GJA8):c.293A>G (p.His98Arg)
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.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.484G>A (p.Glu162Lys) rs1114167310
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.607dup (p.Thr203fs)
NM_005267.5(GJA8):c.64G>A (p.Gly22Ser) rs2149015335
NM_005267.5(GJA8):c.64G>C (p.Gly22Arg)
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)
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.855del (p.Met286fs)
NM_005267.5(GJA8):c.875T>A (p.Leu292Gln)
NM_005267.5(GJA8):c.89dup (p.Ile31fs) rs864309684
NM_005267.5(GJA8):c.92T>C (p.Ile31Thr)
NM_005267.5(GJA8):c.94T>A (p.Phe32Ile)
NM_005267.5(GJA8):c.997G>C (p.Gly333Arg)
NM_021954.4(GJA3):c.1137dup (p.Ser380fs) rs1593332981
NM_021954.4(GJA3):c.1143_1165del (p.Ser381fs)
NM_021954.4(GJA3):c.1152dup (p.Ser385fs)
NM_021954.4(GJA3):c.1189dup (p.Ala397fs)
NM_021954.4(GJA3):c.1197dup (p.Thr400fs)
NM_021954.4(GJA3):c.125A>C (p.Glu42Ala)
NM_021954.4(GJA3):c.130G>A (p.Val44Met) rs981126461
NM_021954.4(GJA3):c.134G>C (p.Trp45Ser)
NM_021954.4(GJA3):c.139G>A (p.Asp47Asn)
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)
NM_021954.4(GJA3):c.143A>G (p.Glu48Gly)
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro) rs2141138396
NM_021954.4(GJA3):c.163A>G (p.Asn55Asp)
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu) rs864309691
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys) rs2141138365
NM_021954.4(GJA3):c.188A>G (p.Asn63Ser) rs121917823
NM_021954.4(GJA3):c.199G>C (p.Asp67His)
NM_021954.4(GJA3):c.1A>G (p.Met1Val)
NM_021954.4(GJA3):c.200A>G (p.Asp67Gly)
NM_021954.4(GJA3):c.226C>G (p.Arg76Gly)
NM_021954.4(GJA3):c.227G>A (p.Arg76His) rs121917827
NM_021954.4(GJA3):c.260C>T (p.Thr87Met) rs864309687
NM_021954.4(GJA3):c.268C>T (p.Leu90Phe)
NM_021954.4(GJA3):c.290T>G (p.Leu97Arg)
NM_021954.4(GJA3):c.32T>C (p.Leu11Ser)
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) rs398122937
NM_021954.4(GJA3):c.428G>A (p.Gly143Glu)
NM_021954.4(GJA3):c.43C>A (p.Gln15Lys) rs1958823641
NM_021954.4(GJA3):c.443C>T (p.Thr148Ile) rs1555339477
NM_021954.4(GJA3):c.466A>C (p.Lys156Gln) rs1114167308
NM_021954.4(GJA3):c.559C>T (p.Pro187Ser) rs2141138001
NM_021954.4(GJA3):c.560C>T (p.Pro187Leu) rs121917825
NM_021954.4(GJA3):c.563A>C (p.Asn188Thr) rs140332366
NM_021954.4(GJA3):c.563A>T (p.Asn188Ile) rs140332366
NM_021954.4(GJA3):c.56C>T (p.Thr19Met) rs1114167307
NM_021954.4(GJA3):c.578T>C (p.Phe193Ser)
NM_021954.4(GJA3):c.584C>T (p.Ser195Phe)
NM_021954.4(GJA3):c.589C>T (p.Pro197Ser)
NM_021954.4(GJA3):c.595G>A (p.Glu199Lys) rs2141137977
NM_021954.4(GJA3):c.596A>C (p.Glu199Ala)
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) rs397514703
NM_021954.4(GJA3):c.616T>A (p.Phe206Ile) rs397514704
NM_021954.4(GJA3):c.64G>A (p.Gly22Ser)
NM_021954.4(GJA3):c.771dup (p.Ser258fs)
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
NM_021954.4(GJA3):c.815_817dup (p.Tyr272_Ala273insAsp)
NM_021954.4(GJA3):c.82G>A (p.Val28Met) rs1555339539
NM_021954.4(GJA3):c.82G>T (p.Val28Leu)
NM_021954.4(GJA3):c.92T>A (p.Ile31Asn)
NM_021954.4(GJA3):c.950dup (p.His318fs)
NM_021954.4(GJA3):c.96C>A (p.Phe32Leu)
NM_021954.4(GJA3):c.98G>T (p.Arg33Leu) rs374701362

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