ClinVar Miner

List of variants in gene LDLR reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.1329G>C (p.Trp443Cys) rs879254867 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_000527.5(LDLR):c.325T>C (p.Cys109Arg) rs140807148 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
GRCh37/hg19 19p13.2(chr19:11210899-11222315)x3
GRCh37/hg19 19p13.2(chr19:11233850-11242283)x1
GRCh37/hg19 19p13.2(chr19:11240189-11241992)x1
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1659C>G (p.Tyr553Ter) rs564258872
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1784_1790del (p.Arg595fs) rs879255020
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2100C>G (p.Asp700Glu) rs759858813
NM_000527.5(LDLR):c.2430G>A (p.Trp810Ter) rs879255210
NM_000527.5(LDLR):c.261G>A (p.Trp87Ter) rs199570811
NM_000527.5(LDLR):c.382del (p.Cys128fs)
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.420G>C (p.Glu140Asp) rs879254520
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917

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