ClinVar Miner

List of variants studied for cataract 18 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
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Total variants: 6
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HGVS dbSNP
FYCO1, IVS9DS, G-T, +1
NM_024513.4(FYCO1):c.1045C>T (p.Gln349Ter) rs387906963
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.3858_3862dup (p.Leu1288fs) rs1240503246
NM_024513.4(FYCO1):c.4127T>C (p.Leu1376Pro) rs387906965

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