ClinVar Miner

List of variants reported as pathogenic for cataract 1 multiple types

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
Download table as spreadsheet
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.(?_146714354)_(147381384_?)del
NC_000001.10:g.(?_147380063)_(147381404_?)del
NM_005267.5(GJA8):c.130G>A (p.Val44Met)
NM_005267.5(GJA8):c.131T>A (p.Val44Glu) rs80358204
NM_005267.5(GJA8):c.133T>C (p.Trp45Arg)
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.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)
NM_005267.5(GJA8):c.196T>C (p.Tyr66His) rs1571175950
NM_005267.5(GJA8):c.197A>G (p.Tyr66Cys) rs1651881222
NM_005267.5(GJA8):c.20T>C (p.Leu7Pro)
NM_005267.5(GJA8):c.226C>T (p.Arg76Cys) rs1553242577
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.566C>T (p.Pro189Leu) rs397515627
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.602A>G (p.Glu201Gly) rs1651919374
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)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.