ClinVar Miner

List of variants in gene LDLR reported as likely pathogenic for Homozygous familial hypercholesterolemia

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230 0.00004
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828 0.00004
NM_000527.5(LDLR):c.718G>A (p.Glu240Lys) rs768563000 0.00004
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_000527.5(LDLR):c.1222G>A (p.Glu408Lys) rs137943601 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080 0.00001
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040 0.00001
NM_000527.5(LDLR):c.938G>A (p.Cys313Tyr) rs875989911 0.00001
NC_000019.9:g.(?_11230768)_(11240346_?)dup
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1694G>T (p.Gly565Val) rs28942082
NM_000527.5(LDLR):c.1735G>A (p.Asp579Asn) rs875989929
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.1911del (p.Asp638fs) rs867272973
NM_000527.5(LDLR):c.2096C>T (p.Pro699Leu)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.269A>G (p.Asp90Gly) rs771019366
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.589T>G (p.Cys197Gly) rs730882085
NM_000527.5(LDLR):c.761A>C (p.Gln254Pro) rs879254667
NM_000527.5(LDLR):c.912C>G (p.Asp304Glu) rs875989909

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