List of variants reported as uncertain significance for cataract by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_005670.4(EPM2A):c.376A>G (p.Ile126Val)	rs150452237	0.00041
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu)	rs375878222	0.00012
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr)	rs754982440	0.00003
NM_003380.5(VIM):c.1141C>T (p.Arg381Cys)	rs749084801	0.00002
NM_005670.4(EPM2A):c.*1691G>A	rs750320097	0.00002
NM_000496.3(CRYBB2):c.472G>A (p.Gly158Ser)	rs539443672	0.00001
NM_001289808.2(CRYAB):c.10G>A (p.Ala4Thr)	rs1264081192	0.00001
NM_001374675.1(HSF4):c.1222A>G (p.Thr408Ala)	rs760918985	0.00001
NM_172250.3(MMAA):c.304G>A (p.Ala102Thr)	rs1328584680	0.00001
NM_000496.3(CRYBB2):c.24G>C (p.Gln8His)	rs1935318753
NM_000496.3(CRYBB2):c.254G>T (p.Trp85Leu)	rs1935450863
NM_006755.2(TALDO1):c.328A>G (p.Arg110Gly)	rs766745943
NM_015073.3(SIPA1L3):c.3535T>G (p.Tyr1179Asp)	rs1971857507
NM_015073.3(SIPA1L3):c.5248C>T (p.Arg1750Trp)	rs1261792226

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