ClinVar Miner

List of variants in gene LDLR reported as pathogenic by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.523G>A (p.Asp175Asn) rs121908033 0.00001
NM_000527.5(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1467C>G (p.Tyr489Ter) rs370777955
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1730G>A (p.Trp577Ter) rs138947766
NM_000527.5(LDLR):c.2475C>G (p.Asn825Lys) rs374045590
NM_000527.5(LDLR):c.81C>G (p.Cys27Trp)

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