List of variants in gene GJA8 reported as likely pathogenic for cataract

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_005267.5(GJA8):c.101T>C (p.Ile34Thr)
NM_005267.5(GJA8):c.137G>A (p.Gly46Glu)
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.263C>A (p.Pro88Gln)	rs782199122
NM_005267.5(GJA8):c.263C>G (p.Pro88Arg)
NM_005267.5(GJA8):c.592C>T (p.Arg198Trp)
NM_005267.5(GJA8):c.601G>A (p.Glu201Lys)
NM_005267.5(GJA8):c.64G>T (p.Gly22Cys)

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