ClinVar Miner

List of variants in gene LDLR reported as likely benign by Invitae

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Gene type:
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Total variants: 29
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HGVS dbSNP
NM_000527.4(LDLR):c.1186+8C>G rs746742171
NM_000527.4(LDLR):c.1239G>A (p.Thr413=) rs777011006
NM_000527.4(LDLR):c.1279A>C (p.Arg427=) rs371355878
NM_000527.4(LDLR):c.1428C>T (p.Pro476=) rs543392107
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1530G>A (p.Thr510=) rs367655096
NM_000527.4(LDLR):c.1635G>A (p.Gly545=) rs767602284
NM_000527.4(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.1974C>T (p.Leu658=) rs546153613
NM_000527.4(LDLR):c.2055G>A (p.Pro685=) rs149126953
NM_000527.4(LDLR):c.2064C>T (p.Asn688=) rs142279332
NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) rs140731590
NM_000527.4(LDLR):c.2231G>A (p.Arg744Gln) rs137853963
NM_000527.4(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_000527.4(LDLR):c.2322C>T (p.Asp774=) rs746132154
NM_000527.4(LDLR):c.2389+7G>A rs369551855
NM_000527.4(LDLR):c.2441G>A (p.Arg814Gln) rs5928
NM_000527.4(LDLR):c.2478C>T (p.Pro826=) rs774831273
NM_000527.4(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.4(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.4(LDLR):c.285C>T (p.Cys95=) rs139400379
NM_000527.4(LDLR):c.336C>T (p.Asp112=) rs747806084
NM_000527.4(LDLR):c.351C>T (p.His117=) rs200258458
NM_000527.4(LDLR):c.531G>A (p.Ser177=) rs555158224
NM_000527.4(LDLR):c.564C>T (p.Tyr188=) rs121908034
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.948C>T (p.Asn316=) rs780673258

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