ClinVar Miner

List of variants reported as likely pathogenic by Eye Genetics Research Group,Children's Medical Research Institute

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Total variants: 17
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HGVS dbSNP
NM_000280.4(PAX6):c.197T>A (p.Ile66Asn) rs864309686
NM_000394.4(CRYAA):c.142T>G (p.Tyr48Asp) rs864309685
NM_000496.2(CRYBB2):c.[343C>A;355G>A]
NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro) rs864309683
NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly) rs147344332
NM_001195.4(BFSP1):c.[1492delT];[812T>C]
NM_001289808.2(CRYAB):c.320G>T (p.Arg107Leu) rs144451841
NM_001887.4(CRYBB1):c.368G>A (p.Arg123His) rs864309682
NM_003380.5(VIM):c.15del (p.Val6fs) rs864309690
NM_004076.5(CRYBB3):c.634T>C (p.Ter212Arg) rs864309700
NM_005267.5(GJA8):c.119C>T (p.Ala40Val) rs864309677
NM_005267.5(GJA8):c.151G>A (p.Asp51Asn) rs864309703
NM_005360.5(MAF):c.819G>C (p.Glu273Asp) rs864309678
NM_005360.5(MAF):c.880C>T (p.Arg294Trp) rs864309695
NM_005360.5(MAF):c.915C>T (p.Cys305=) rs864309692
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_022787.4(NMNAT1):c.271G>A (p.Glu91Lys) rs1271498710

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