ClinVar Miner

List of variants in gene LCAT reported as pathogenic for Fish-eye disease

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000229.2(LCAT):c.440C>T (p.Thr147Ile) rs121908050 0.00004
NM_000229.2(LCAT):c.1112C>T (p.Thr371Met) rs121908053
NM_000229.2(LCAT):c.463A>G (p.Asn155Asp) rs121908057
NM_000229.2(LCAT):c.524-22T>C rs794726664
NM_000229.2(LCAT):c.969CCT[1] (p.Leu325del) rs121908056

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