ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Quest Diagnostics Nichols Institute San Juan Capistrano

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Gene type:
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Total variants: 78
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln) rs5928 0.00113
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp) rs150673992 0.00044
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys) rs139791325 0.00021
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00019
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser) rs141673997 0.00019
NM_000527.5(LDLR):c.2106G>A (p.Met702Ile) rs140731590 0.00011
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp) rs200990725 0.00010
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg) rs5931 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.967G>A (p.Gly323Ser) rs373869746 0.00006
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys) rs370471092 0.00005
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00005
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00005
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00004
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00002
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551 0.00002
NM_000527.5(LDLR):c.-101T>C rs747068848 0.00001
NM_000527.5(LDLR):c.-80T>C rs1247322702 0.00001
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860 0.00001
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn) rs778284147 0.00001
NM_000527.5(LDLR):c.1515C>T (p.Gly505=) rs780757228 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2165A>G (p.Gln722Arg) rs1301407364 0.00001
NM_000527.5(LDLR):c.2323G>A (p.Val775Ile) rs199766976 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.694+8C>T rs370855899 0.00001
NM_000527.5(LDLR):c.770G>A (p.Arg257Gln) rs757808215 0.00001
NM_000527.5(LDLR):c.935A>G (p.Glu312Gly) rs1380197577 0.00001
NM_000527.5(LDLR):c.-138T>C rs879254372
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.1060+10G>A rs12710260
NM_000527.5(LDLR):c.1099C>T (p.Leu367Phe)
NM_000527.5(LDLR):c.1214A>G (p.Asn405Ser) rs879254836
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1295T>G (p.Leu432Arg)
NM_000527.5(LDLR):c.134T>G (p.Val45Gly) rs1600700584
NM_000527.5(LDLR):c.1353C>G (p.Ile451Met) rs1301796529
NM_000527.5(LDLR):c.138C>G (p.Cys46Trp) rs754676104
NM_000527.5(LDLR):c.1474G>T (p.Asp492Tyr) rs373646964
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1495T>A (p.Ser499Thr)
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1688C>A (p.Pro563His) rs879254987
NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del) rs2077473508
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1874A>G (p.Asn625Ser) rs879255064
NM_000527.5(LDLR):c.1888A>G (p.Ser630Gly) rs2077524048
NM_000527.5(LDLR):c.1891G>C (p.Ala631Pro) rs2512428615
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.2312C>A (p.Ala771Asp)
NM_000527.5(LDLR):c.2390-3C>G rs755033580
NM_000527.5(LDLR):c.2500G>C (p.Asp834His) rs1171570203
NM_000527.5(LDLR):c.2512A>G (p.Ile838Val) rs1600765567
NM_000527.5(LDLR):c.2547+9C>A rs746674813
NM_000527.5(LDLR):c.264G>A (p.Arg88=) rs879254454
NM_000527.5(LDLR):c.347G>A (p.Cys116Tyr) rs879254485
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.382T>A (p.Cys128Ser)
NM_000527.5(LDLR):c.401G>C (p.Cys134Ser) rs879254514
NM_000527.5(LDLR):c.453C>T (p.Ala151=) rs2147223985
NM_000527.5(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.5(LDLR):c.530C>G (p.Ser177Trp) rs121908026
NM_000527.5(LDLR):c.535G>A (p.Glu179Lys) rs879254567
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.647G>T (p.Cys216Phe) rs879254611
NM_000527.5(LDLR):c.722T>C (p.Phe241Ser) rs748131256
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.818-7C>G rs996181498
NM_000527.5(LDLR):c.899G>C (p.Arg300Thr) rs2077313724

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