ClinVar Miner

List of variants reported as benign for Hypercholesterolemia, familial, 1 by Illumina Laboratory Services, Illumina

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_015627.3(LDLRAP1):c.*985_*986insTG rs10635955 0.99254
NM_000527.5(LDLR):c.*1262T>C rs2915966 0.82752
NM_000527.5(LDLR):c.*315G>C rs2738464 0.80309
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_000527.5(LDLR):c.*666T>C rs1433099 0.65588
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.*1268C>T rs2978615 0.36542
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.*1743C>T rs2738467 0.32777
NM_000527.5(LDLR):c.*504G>A rs2738465 0.29077
NM_000527.5(LDLR):c.*1453A>G rs5742911 0.26927
NM_000527.5(LDLR):c.*1600G>T rs17249064 0.22753
NM_000527.5(LDLR):c.*773A>G rs2738466 0.22642
NM_000527.5(LDLR):c.*1510T>C rs17249057 0.22584
NM_000527.5(LDLR):c.*52G>A rs14158 0.22552
NM_000527.5(LDLR):c.*1336C>G rs72658877 0.22138
NM_000527.5(LDLR):c.*1376T>C rs55903358 0.22087
NM_000527.5(LDLR):c.*1168G>A rs17242683 0.22045
NM_000527.5(LDLR):c.*1419C>A rs55971831 0.21209
NM_000527.5(LDLR):c.*1354T>C rs7258146 0.18343
NM_000527.5(LDLR):c.*1430C>T rs7254521 0.13116
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.*2016G>A rs72658879 0.03308
NM_000527.5(LDLR):c.*1332G>A rs10415069 0.03144
NM_000527.5(LDLR):c.*982G>C rs10409044 0.03142
NM_000527.5(LDLR):c.*1340C>A rs186461273 0.00951
NM_000527.5(LDLR):c.1194C>T (p.Ile398=) rs13306498 0.00138
NM_000527.5(LDLR):c.*1217C>G rs3180023
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.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_015627.3(LDLRAP1):c.*449del rs397860393

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