ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Stanford Center for Inherited Cardiovascular Disease,Stanford University

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Total variants: 18
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HGVS dbSNP
NM_000527.4(LDLR):c.337dup (p.Glu113fs) rs752191968
NM_000527.4(LDLR):c.680_681delAC (p.Asp227Glyfs) rs387906305
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1187-10G>A
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.131G>A (p.Trp44Ter) rs267607213
NM_000527.5(LDLR):c.1586+5G>A rs781362878
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027

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