ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Robarts Research Institute,Western University

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Gene type:
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Total variants: 25
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HGVS dbSNP
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1186G>A (p.Gly396Ser) rs879254820
NM_000527.4(LDLR):c.1210A>C (p.Thr404Pro) rs879254834
NM_000527.4(LDLR):c.1230G>C (p.Arg410Ser) rs879254839
NM_000527.4(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.4(LDLR):c.1418T>G (p.Ile473Ser) rs879254895
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1432G>T (p.Gly478Trp) rs144614838
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.1586+12C>T rs777953287
NM_000527.4(LDLR):c.1587-11C>T rs201957233
NM_000527.4(LDLR):c.1731G>T (p.Trp577Cys) rs875989928
NM_000527.4(LDLR):c.1744C>G (p.Leu582Val) rs1131692216
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.1846-10G>T rs368243304
NM_000527.4(LDLR):c.1855T>C (p.Phe619Leu) rs747134711
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.2092T>G (p.Cys698Gly) rs1555807442
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.718G>A (p.Glu240Lys) rs768563000
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.941-12G>A rs879254734

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