ClinVar Miner

List of variants in gene LDLR reported as benign for Familial hypercholesterolemias

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Total variants: 14
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HGVS dbSNP
NM_000527.4(LDLR):c.1545C>T (p.Asn515=) rs147896205
NM_000527.4(LDLR):c.1586+16G>A rs114891301
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.4(LDLR):c.2140+5G>A rs72658867
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2390-16G>A rs183496025
NM_000527.4(LDLR):c.2579C>T (p.Ala860Val) rs13306505
NM_000527.4(LDLR):c.498C>T (p.Ala166=) rs10417394
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.940+9C>T rs17242906
NM_000527.4(LDLR):c.941-4G>A rs116405216
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.993C>T (p.Asp331=) rs147905921

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