ClinVar Miner

List of variants in gene LDLR reported as benign by GeneDx

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Gene type:
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Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_000527.5(LDLR):c.2389+214C>T rs2304181 0.11074
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_000527.5(LDLR):c.*141G>A rs3826810 0.06460
NM_000527.5(LDLR):c.940+171G>A rs140898392 0.03637
NM_000527.5(LDLR):c.1586+154A>G rs17248833 0.02820
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_000527.5(LDLR):c.1187-25C>T rs72658862 0.00812
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1060+7=
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1845+157del rs58321173
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2141-180del rs35951147
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2548-177G>A rs2116899
NM_000527.5(LDLR):c.67+184C>G rs17242766
NM_000527.5(LDLR):c.941-4G>A

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