ClinVar Miner

List of variants reported as likely pathogenic for Congenital cataract

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Total variants: 24
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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_000394.4(CRYAA):c.440del (p.Gln147fs) rs1114167311
NM_000496.2(CRYBB2):c.[343C>A;355G>A]
NM_000496.3(CRYBB2):c.463C>T (p.Gln155Ter) rs74315489
NM_000496.3(CRYBB2):c.556T>C (p.Ser186Pro) rs864309683
NM_000496.3(CRYBB2):c.583T>G (p.Trp195Gly) rs147344332
NM_001123385.1(BCOR):c.(3502+1_3503-1)_(4173+1_4174-1)del
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_003846.2(PEX11B):c.(?_-1)_(374+1_375-1)del
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.188C>G (p.Pro63Arg) rs1057518878
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_015480.3(NECTIN3):c.886A>C (p.Asn296His) rs79006549
NM_021954.4(GJA3):c.7G>C (p.Asp3His) rs864309694
NM_145655.3(GCNT2):c.1169_1172del (p.Asn390fs) rs1114167314
hg19chr22:g.26995597_27074524dup

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