List of variants reported as pathogenic for cataract 14 multiple types by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_021954.4(GJA3):c.130G>A (p.Val44Met)	rs981126461
NM_021954.4(GJA3):c.142G>A (p.Glu48Lys)
NM_021954.4(GJA3):c.176C>T (p.Pro59Leu)	rs864309691
NM_021954.4(GJA3):c.184G>A (p.Glu62Lys)	rs2141138365
NM_021954.4(GJA3):c.427G>A (p.Gly143Arg)	rs398122937
NM_021954.4(GJA3):c.609C>A (p.Phe203Leu)
NM_021954.4(GJA3):c.7G>T (p.Asp3Tyr)
NM_021954.4(GJA3):c.82G>A (p.Val28Met)	rs1555339539

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