List of variants reported as pathogenic for cataract 6 multiple types by Invitae

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NC_000001.10:g.(?_16451710)_(16532835_?)del
NM_004431.5(EPHA2):c.2426_2427dup (p.Val810fs)
NM_004431.5(EPHA2):c.2826-9G>A	rs886041412
NM_004431.5(EPHA2):c.2915_2916del (p.Val972fs)	rs2024441691
NM_004431.5(EPHA2):c.759G>A (p.Trp253Ter)	rs1569602837
NM_004431.5(EPHA2):c.988dup (p.Ser330fs)

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