ClinVar Miner

List of variants in gene FYCO1 reported as pathogenic for cataract 18

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Total variants: 10
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FYCO1, IVS9DS, G-T, +1
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) rs387906963
NM_024513.4(FYCO1):c.1411C>T (p.Arg471Ter)
NM_024513.4(FYCO1):c.1546C>T (p.Gln516Ter) rs387906966
NM_024513.4(FYCO1):c.2206C>T (p.Gln736Ter) rs387906964
NM_024513.4(FYCO1):c.2505del (p.Ala836fs) rs1575369255
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs) rs747093432
NM_024513.4(FYCO1):c.3858_3862dup (p.Leu1288fs) rs1240503246
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) rs387906965
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln) rs140159323

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