List of variants reported as pathogenic for LCAT deficiency by OMIM

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter)	rs121908055	0.00004
NM_000229.2(LCAT):c.475C>T (p.Arg159Trp)	rs28940887	0.00003
NM_000229.2(LCAT):c.1034C>T (p.Thr345Met)	rs28940888	0.00001
NM_000229.1(LCAT):c.[349G>A;544C>T]
NM_000229.2(LCAT):c.101dup (p.His35fs)
NM_000229.2(LCAT):c.1197dup (p.Gln400fs)	rs794726663
NM_000229.2(LCAT):c.491_493dup (p.Arg164_Ala165insGly)	rs794726662
NM_000229.2(LCAT):c.508T>C (p.Trp170Arg)	rs267607211
NM_000229.2(LCAT):c.698T>C (p.Leu233Pro)	rs28942087
NM_000229.2(LCAT):c.756C>A (p.Asn252Lys)	rs121908049
NM_000229.2(LCAT):c.827T>A (p.Met276Lys)	rs121908054
NM_000229.2(LCAT):c.951G>A (p.Met317Ile)	rs121908048

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