ClinVar Miner

List of variants in gene LCAT studied for Norum disease

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_000229.2(LCAT):c.1177C>T (p.Leu393=) rs5923 0.08390
NM_000229.2(LCAT):c.495C>T (p.Ala165=) rs139146229 0.00060
NM_000229.2(LCAT):c.597C>T (p.Val199=) rs5922 0.00035
NM_000229.2(LCAT):c.1039C>T (p.Arg347Cys) rs202017590 0.00022
NM_000229.2(LCAT):c.618C>T (p.Leu206=) rs372699306 0.00011
NM_000229.2(LCAT):c.382G>A (p.Gly128Ser) rs199560940 0.00005
NM_000229.2(LCAT):c.1113G>A (p.Thr371=) rs368689576 0.00004
NM_000229.2(LCAT):c.1192G>A (p.Gly398Arg) rs772313264 0.00004
NM_000229.2(LCAT):c.159C>T (p.Pro53=) rs556480808 0.00004
NM_000229.2(LCAT):c.321C>A (p.Tyr107Ter) rs121908055 0.00004
NM_000229.2(LCAT):c.440C>T (p.Thr147Ile) rs121908050 0.00004
NM_000229.2(LCAT):c.1021G>A (p.Val341Met) rs746487870 0.00003
NM_000229.2(LCAT):c.367C>T (p.Arg123Cys) rs140068549 0.00003
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_000229.2(LCAT):c.1118C>T (p.Ala373Val) rs756113909 0.00001
NM_000229.2(LCAT):c.1173G>A (p.Val391=) rs775419267 0.00001
NM_000229.2(LCAT):c.1210A>G (p.Met404Val) rs779114194 0.00001
NM_000229.2(LCAT):c.428-4A>G rs202035096 0.00001
NM_000229.2(LCAT):c.481G>A (p.Glu161Lys) rs768148804 0.00001
NM_000229.2(LCAT):c.552C>T (p.Leu184=) rs773303978 0.00001
NM_000229.2(LCAT):c.981A>C (p.Gly327=) rs139453193 0.00001
NM_000229.1(LCAT):c.[349G>A;544C>T]
NM_000229.2(LCAT):c.*12T>C rs886052219
NM_000229.2(LCAT):c.1073C>T (p.Thr358Met)
NM_000229.2(LCAT):c.1083G>A (p.Val361=) rs2058284506
NM_000229.2(LCAT):c.1197dup (p.Gln400fs) rs794726663
NM_000229.2(LCAT):c.340G>A (p.Val114Met) rs35673026
NM_000229.2(LCAT):c.428-2A>T
NM_000229.2(LCAT):c.465T>C (p.Asn155=) rs2058298885
NM_000229.2(LCAT):c.475C>A (p.Arg159=) rs28940887
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.534G>T (p.Glu178Asp) rs886052220
NM_000229.2(LCAT):c.694T>A (p.Ser232Thr) rs4986970
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.802C>T (p.Arg268Cys) rs745320775
NM_000229.2(LCAT):c.827T>A (p.Met276Lys) rs121908054
NM_000229.2(LCAT):c.832C>T (p.Pro278Ser)
NM_000229.2(LCAT):c.861C>T (p.His287=) rs767628388
NM_000229.2(LCAT):c.951G>A (p.Met317Ile) rs121908048
NM_000229.2(LCAT):c.997G>A (p.Val333Met) rs776035233

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