ClinVar Miner

List of variants studied for cataract 1 multiple types by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 90
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.804C>T (p.Leu268=) rs3766503 0.04758
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.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 0.00037
NM_005267.5(GJA8):c.1248G>T (p.Leu416=) rs200369834 0.00016
NM_005267.5(GJA8):c.22G>A (p.Gly8Arg) rs202041458 0.00006
NM_005267.5(GJA8):c.1144G>T (p.Glu382Ter) rs782147633 0.00003
NM_005267.5(GJA8):c.353C>T (p.Ala118Val) rs782306193 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.122C>T (p.Ala41Val) rs782542091 0.00002
NM_005267.5(GJA8):c.1016A>T (p.Glu339Val) rs781871271 0.00001
NM_005267.5(GJA8):c.117G>A (p.Thr39=) rs955467208 0.00001
NM_005267.5(GJA8):c.1288G>A (p.Asp430Asn) rs782429592 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.426G>A (p.Arg142=) rs782313023 0.00001
NM_005267.5(GJA8):c.560C>T (p.Pro187Leu) rs1368547478 0.00001
NM_005267.5(GJA8):c.756C>T (p.Leu252=) rs371651011 0.00001
NM_005267.5(GJA8):c.933C>T (p.Asp311=) rs587747861 0.00001
NM_005267.5(GJA8):c.97C>T (p.Arg33Trp) rs587710840 0.00001
NC_000001.10:g.(?_146714354)_(147381384_?)del
NC_000001.10:g.(?_146714354)_(147381384_?)dup
NC_000001.10:g.(?_147380063)_(147381404_?)del
NM_005267.5(GJA8):c.1001A>C (p.Glu334Ala)
NM_005267.5(GJA8):c.1040G>A (p.Gly347Glu) rs1250862295
NM_005267.5(GJA8):c.1125dup (p.Gly376fs) rs782786257
NM_005267.5(GJA8):c.1126G>A (p.Gly376Arg) rs782314953
NM_005267.5(GJA8):c.1272C>T (p.Ser424=) rs2149016663
NM_005267.5(GJA8):c.1297G>C (p.Val433Leu) rs782206624
NM_005267.5(GJA8):c.130G>A (p.Val44Met) rs782184691
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.135G>T (p.Trp45Cys) rs983216627
NM_005267.5(GJA8):c.136G>A (p.Gly46Arg) rs1553242554
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu) rs2524889140
NM_005267.5(GJA8):c.137G>T (p.Gly46Val) rs2524889140
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.148T>C (p.Ser50Pro) rs1651877524
NM_005267.5(GJA8):c.150C>T (p.Ser50=) rs1651877831
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) rs1307969607
NM_005267.5(GJA8):c.176C>G (p.Pro59Arg)
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) rs1651879427
NM_005267.5(GJA8):c.180C>T (p.Gly60=) rs375604355
NM_005267.5(GJA8):c.184G>A (p.Glu62Lys) rs2149015470
NM_005267.5(GJA8):c.191T>C (p.Val64Ala) rs2524889379
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.20T>C (p.Leu7Pro) rs2524888276
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
NM_005267.5(GJA8):c.242A>G (p.Gln81Arg) rs2149015529
NM_005267.5(GJA8):c.246C>G (p.Ile82Met) rs2524889612
NM_005267.5(GJA8):c.262C>A (p.Pro88Thr) rs80358200
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>G (p.Pro88Arg) rs782199122
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) rs2524889698
NM_005267.5(GJA8):c.269T>A (p.Leu90Gln) rs1553242593
NM_005267.5(GJA8):c.270G>C (p.Leu90=) rs1651886484
NM_005267.5(GJA8):c.333G>A (p.Ala111=)
NM_005267.5(GJA8):c.405C>T (p.Ser135=)
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.528G>T (p.Arg176=) rs1236129318
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.602A>G (p.Glu201Gly) rs1651919374
NM_005267.5(GJA8):c.614T>C (p.Phe205Ser) rs2524891927
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys) rs2149015335
NM_005267.5(GJA8):c.668A>G (p.Glu223Gly) rs2149016020
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.904G>A (p.Glu302Lys)
NM_005267.5(GJA8):c.94T>G (p.Phe32Val) rs2524888666
NM_005267.5(GJA8):c.978G>A (p.Val326=) rs1483268829
NM_005267.5(GJA8):c.97C>G (p.Arg33Gly)
NM_005267.5(GJA8):c.997G>C (p.Gly333Arg) rs587600450

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