ClinVar Miner

List of variants reported as likely pathogenic 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: 49
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005267.5(GJA8):c.139G>C (p.Asp47His) rs121434643
NM_005267.5(GJA8):c.166A>C (p.Thr56Pro)
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.217T>C (p.Ser73Pro)
NM_005267.5(GJA8):c.218C>T (p.Ser73Phe)
NM_005267.5(GJA8):c.227G>A (p.Arg76His) rs2149015516
NM_005267.5(GJA8):c.235G>C (p.Val79Leu)
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.430_444del (p.Glu144_Leu148del)
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.766dup (p.Ala256fs)
NM_005267.5(GJA8):c.773C>T (p.Ser258Phe)
NM_005267.5(GJA8):c.89dup (p.Ile31fs) rs864309684
NM_005267.5(GJA8):c.92T>C (p.Ile31Thr)
NM_021954.4(GJA3):c.1143_1165del (p.Ser381fs)
NM_021954.4(GJA3):c.1152dup (p.Ser385fs)
NM_021954.4(GJA3):c.1197dup (p.Thr400fs)
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.143A>G (p.Glu48Gly)
NM_021954.4(GJA3):c.148T>C (p.Ser50Pro) rs2141138396
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.1A>G (p.Met1Val)
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.32T>C (p.Leu11Ser)
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg) rs398122937
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.56C>T (p.Thr19Met) rs1114167307
NM_021954.4(GJA3):c.584C>T (p.Ser195Phe)
NM_021954.4(GJA3):c.5G>A (p.Gly2Asp) rs397514703
NM_021954.4(GJA3):c.64G>A (p.Gly22Ser)
NM_021954.4(GJA3):c.771dup (p.Ser258fs)
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
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

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.