ClinVar Miner

List of variants reported as pathogenic for Fish-eye disease

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Total variants: 6
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HGVS dbSNP
NM_000229.2(LCAT):c.101C>T (p.Pro34Leu) rs121908051
NM_000229.2(LCAT):c.1112C>T (p.Thr371Met) rs121908053
NM_000229.2(LCAT):c.440C>T (p.Thr147Ile) rs121908050
NM_000229.2(LCAT):c.463A>G (p.Asn155Asp) rs121908057
NM_000229.2(LCAT):c.524-22T>C rs794726664
NM_000229.2(LCAT):c.969_971CCT[1] (p.Leu325del) rs121908056

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