ClinVar Miner

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

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Total variants: 33
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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.101T>C (p.Ile34Thr)
NM_005267.5(GJA8):c.116C>A (p.Thr39Lys)
NM_005267.5(GJA8):c.134G>T (p.Trp45Leu) rs864309688
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu)
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.191T>C (p.Val64Ala)
NM_005267.5(GJA8):c.197A>C (p.Tyr66Ser) rs1651881222
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly) rs2149015482
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>G (p.Pro88Arg)
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.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)
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.64G>T (p.Gly22Cys)
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)

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