List of variants reported as pathogenic for Cataract 1 multiple types by Molecular Genetics of Human Eye Development, Oxford Brookes University

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005267.5(GJA8):c.130G>A (p.Val44Met)	rs782184691
NM_005267.5(GJA8):c.196T>G (p.Tyr66Asp)
NM_005267.5(GJA8):c.200A>G (p.Asp67Gly)	rs2149015482
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.592C>T (p.Arg198Trp)	rs2524891845
NM_005267.5(GJA8):c.64G>A (p.Gly22Ser)	rs2149015335

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