ClinVar Miner

List of variants reported as likely pathogenic for Cataract 1 multiple types by Dept. Genetics and Cancer, Menzies Institute for Medical Research, University of Tasmania

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_005267.5(GJA8):c.134G>C (p.Trp45Ser) rs864309688 0.00001
NM_005267.5(GJA8):c.121G>C (p.Ala41Pro)
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) rs1571175899
NM_005267.5(GJA8):c.175C>G (p.Pro59Ala) rs2524889317
NM_005267.5(GJA8):c.178G>A (p.Gly60Ser) rs2524889327
NM_005267.5(GJA8):c.178G>C (p.Gly60Arg) rs2524889327
NM_005267.5(GJA8):c.217T>C (p.Ser73Pro) rs2524889508
NM_005267.5(GJA8):c.218C>T (p.Ser73Phe) rs2524889513
NM_005267.5(GJA8):c.227G>A (p.Arg76His) rs2149015516
NM_005267.5(GJA8):c.235G>C (p.Val79Leu) rs782285117
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) rs2524891019
NM_005267.5(GJA8):c.607dup (p.Thr203fs) rs2524891890
NM_005267.5(GJA8):c.64G>A (p.Gly22Ser) rs2149015335
NM_005267.5(GJA8):c.64G>C (p.Gly22Arg) rs2149015335
NM_005267.5(GJA8):c.68G>C (p.Arg23Thr) rs80358203
NM_005267.5(GJA8):c.766dup (p.Ala256fs) rs2524892983
NM_005267.5(GJA8):c.773C>T (p.Ser258Phe) rs2524893038
NM_005267.5(GJA8):c.89dup (p.Ile31fs) rs864309684
NM_005267.5(GJA8):c.92T>C (p.Ile31Thr) rs2524888659

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