ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 41
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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.134G>C (p.Trp45Ser) rs864309688 0.00001
NC_000001.10:g.(?_147380063)_(147381404_?)del
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.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>T (p.Gly46Val) rs2524889140
NM_005267.5(GJA8):c.139G>A (p.Asp47Asn) rs121434643
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.151G>A (p.Asp51Asn) rs864309703
NM_005267.5(GJA8):c.153C>G (p.Asp51Glu) rs1307969607
NM_005267.5(GJA8):c.176C>T (p.Pro59Leu) rs1651879427
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.196T>G (p.Tyr66Asp)
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.20T>C (p.Leu7Pro) rs2524888276
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
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>T (p.Pro88Leu) rs782199122
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.293A>G (p.His98Arg) rs2524889972
NM_005267.5(GJA8):c.565C>T (p.Pro189Ser) rs2149015924
NM_005267.5(GJA8):c.566C>T (p.Pro189Leu) rs397515627
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.64G>A (p.Gly22Ser) rs2149015335
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) rs80358203
NM_005267.5(GJA8):c.827C>T (p.Ser276Phe) rs45619342
NM_005267.5(GJA8):c.94T>G (p.Phe32Val) rs2524888666

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