ClinVar Miner

List of variants reported as uncertain significance for Familial hypercholesterolemia by Labcorp Genetics (formerly Invitae), Labcorp

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ClinVar version:
Total variants: 340
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala) rs138315511 0.00008
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile) rs769247787 0.00008
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.1359-3C>T rs775657243 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_000527.5(LDLR):c.2579C>T (p.Ala860Val) rs13306505 0.00005
NM_000527.5(LDLR):c.710G>A (p.Arg237His) rs148171426 0.00005
NM_000527.5(LDLR):c.1359-5C>G rs531005522 0.00004
NM_000527.5(LDLR):c.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.190T>C (p.Leu64=) rs761629258 0.00004
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu) rs369943481 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.73G>A (p.Asp25Asn) rs562712652 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu) rs749780672 0.00003
NM_000527.5(LDLR):c.1835C>T (p.Ala612Val) rs377449975 0.00003
NM_000527.5(LDLR):c.2324T>C (p.Val775Ala) rs780300776 0.00003
NM_000527.5(LDLR):c.2359G>A (p.Val787Met) rs143771219 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.343C>T (p.Arg115Cys) rs774723292 0.00003
NC_000019.10:g.11089396C>T rs879254366 0.00002
NC_000019.10:g.11089410C>G rs879254371 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1588T>G (p.Phe530Val) rs875989924 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.2195G>C (p.Ser732Thr) rs764542721 0.00002
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NC_000019.10:g.11089429C>T rs875989886 0.00001
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1186+5G>C rs879254821 0.00001
NM_000527.5(LDLR):c.1234A>T (p.Met412Leu) rs1225797407 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1336C>A (p.Leu446Met) rs375651668 0.00001
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile) rs750363970 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1564A>C (p.Ile522Leu) rs774337050 0.00001
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys) rs2077458389 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp) rs140644832 0.00001
NM_000527.5(LDLR):c.1817C>A (p.Ala606Asp) rs1410295777 0.00001
NM_000527.5(LDLR):c.1912G>A (p.Asp638Asn) rs757672647 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785 0.00001
NM_000527.5(LDLR):c.2018G>A (p.Ser673Asn) rs1273197962 0.00001
NM_000527.5(LDLR):c.2119G>A (p.Asp707Asn) rs879255142 0.00001
NM_000527.5(LDLR):c.211G>A (p.Gly71Arg) rs766903209 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.5(LDLR):c.2395C>T (p.Leu799Phe) rs72658869 0.00001
NM_000527.5(LDLR):c.2440C>T (p.Arg814Trp) rs746616623 0.00001
NM_000527.5(LDLR):c.2530G>A (p.Gly844Ser) rs1555809614 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.572A>C (p.Gln191Pro) rs1423948022 0.00001
NM_000527.5(LDLR):c.688A>G (p.Asn230Asp) rs1266776177 0.00001
NM_000527.5(LDLR):c.731C>G (p.Ser244Cys) rs1208667598 0.00001
NM_000527.5(LDLR):c.746T>C (p.Ile249Thr) rs879254665 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.774A>G (p.Glu258=) rs1307291980 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.932A>C (p.Lys311Thr) rs761765254 0.00001
NM_000527.5(LDLR):c.947A>G (p.Asn316Ser) rs730882094 0.00001
NC_000019.10:g.11089319del
NC_000019.10:g.11089321G>C
NC_000019.10:g.11089332C>G rs17249141
NC_000019.10:g.11089334A>C
NC_000019.10:g.11089342T>C
NC_000019.10:g.11089362C>T rs2077054466
NC_000019.10:g.11089371T>C
NC_000019.10:g.11089383A>C
NC_000019.10:g.11089391A>T
NC_000019.10:g.11089393C>T rs879254364
NC_000019.10:g.11089398C>A
NC_000019.10:g.11089407C>G rs879254370
NC_000019.10:g.11089410C>T rs879254371
NC_000019.10:g.11089411del rs387906307
NC_000019.10:g.11089412C>T rs879254373
NC_000019.10:g.11089413C>A rs879254374
NC_000019.10:g.11089452G>A rs944580031
NC_000019.9:g.(?_10912954)_(11200309_?)dup
NC_000019.9:g.(?_11199955)_(11200311_?)dup
NC_000019.9:g.(?_11210879)_(11221467_?)dup
NC_000019.9:g.(?_11221308)_(11234040_?)dup
NC_000019.9:g.(?_11233830)_(11242035_?)dup
NC_000019.9:g.(?_11238664)_(11238781_?)dup
NC_000019.9:g.(?_11241937)_(11241992_?)dup
NG_009060.1(LDLR):g.4976CTC[2] rs1270618112
NM_000527.4(LDLR):c.-139_-130delCTCCCCCTGC rs2077055015
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-22C>T
NM_000527.5(LDLR):c.-56T>C
NM_000527.5(LDLR):c.1006T>G (p.Tyr336Asp) rs759398558
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1067_1068insAGAGTGTCAGGATCCCGA (p.Ile355_Asp356insGluGluCysGlnAspPro)
NM_000527.5(LDLR):c.1075C>A (p.Gln359Lys)
NM_000527.5(LDLR):c.1088C>A (p.Thr363Asn) rs200533979
NM_000527.5(LDLR):c.1088C>T (p.Thr363Ile)
NM_000527.5(LDLR):c.108C>A (p.Asp36Glu) rs373144619
NM_000527.5(LDLR):c.1145G>T (p.Gly382Val) rs752951310
NM_000527.5(LDLR):c.114A>C (p.Lys38Asn) rs2147210320
NM_000527.5(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.115T>C (p.Cys39Arg) rs1555802275
NM_000527.5(LDLR):c.1162C>G (p.His388Asp) rs764551797
NM_000527.5(LDLR):c.1171G>C (p.Ala391Pro)
NM_000527.5(LDLR):c.1179G>T (p.Lys393Asn) rs879254816
NM_000527.5(LDLR):c.117C>T (p.Cys39=) rs2077193721
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1187G>C (p.Gly396Ala)
NM_000527.5(LDLR):c.1221C>A (p.His407Gln)
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.1263C>A (p.Ser421Arg) rs752942769
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.5(LDLR):c.1277T>G (p.Leu426Arg) rs879254851
NM_000527.5(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.5(LDLR):c.1309G>C (p.Ala437Pro)
NM_000527.5(LDLR):c.1316A>G (p.Asn439Ser)
NM_000527.5(LDLR):c.1324T>C (p.Tyr442His) rs879254863
NM_000527.5(LDLR):c.133G>A (p.Val45Ile)
NM_000527.5(LDLR):c.1340C>G (p.Ser447Cys) rs879254870
NM_000527.5(LDLR):c.1340C>T (p.Ser447Phe)
NM_000527.5(LDLR):c.1346G>T (p.Arg449Ile)
NM_000527.5(LDLR):c.134T>G (p.Val45Gly) rs1600700584
NM_000527.5(LDLR):c.1357A>G (p.Ser453Gly)
NM_000527.5(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1408A>G (p.Ser470Gly) rs1057516128
NM_000527.5(LDLR):c.1413_1414delinsGA (p.Asp472Asn) rs2077416170
NM_000527.5(LDLR):c.1422G>T (p.Gln474His) rs2147248583
NM_000527.5(LDLR):c.1427C>G (p.Pro476Arg)
NM_000527.5(LDLR):c.1431C>G (p.Asp477Glu)
NM_000527.5(LDLR):c.1450A>G (p.Ile484Val) rs2147248832
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) rs879254911
NM_000527.5(LDLR):c.1471A>G (p.Thr491Ala)
NM_000527.5(LDLR):c.1484T>G (p.Leu495Arg) rs1370312225
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1554G>C (p.Lys518Asn)
NM_000527.5(LDLR):c.1555C>A (p.Pro519Thr) rs875989923
NM_000527.5(LDLR):c.1559G>T (p.Arg520Met)
NM_000527.5(LDLR):c.1574A>C (p.Asp525Ala) rs879254943
NM_000527.5(LDLR):c.1583A>G (p.His528Arg) rs1489999751
NM_000527.5(LDLR):c.1585G>T (p.Gly529Cys)
NM_000527.5(LDLR):c.1586+4C>A
NM_000527.5(LDLR):c.1586+4C>G
NM_000527.5(LDLR):c.1587-3C>A
NM_000527.5(LDLR):c.1592T>G (p.Met531Arg) rs779913921
NM_000527.5(LDLR):c.1595A>G (p.Tyr532Cys) rs1060499925
NM_000527.5(LDLR):c.1597T>G (p.Trp533Gly) rs879254951
NM_000527.5(LDLR):c.1599G>T (p.Trp533Cys)
NM_000527.5(LDLR):c.1600_1608del (p.Thr534_Trp536del) rs879254953
NM_000527.5(LDLR):c.1609G>C (p.Gly537Arg)
NM_000527.5(LDLR):c.1612A>G (p.Thr538Ala) rs879254960
NM_000527.5(LDLR):c.1613C>T (p.Thr538Ile) rs776225771
NM_000527.5(LDLR):c.161A>C (p.Asp54Ala) rs2147210651
NM_000527.5(LDLR):c.1622A>G (p.Lys541Arg)
NM_000527.5(LDLR):c.1659_1660insGAG (p.Tyr553_Ser554insGlu) rs2147255468
NM_000527.5(LDLR):c.1670C>T (p.Thr557Ile)
NM_000527.5(LDLR):c.1684_1686dup (p.Trp562dup) rs879254983
NM_000527.5(LDLR):c.1686G>T (p.Trp562Cys) rs879254985
NM_000527.5(LDLR):c.1687C>A (p.Pro563Thr) rs879254986
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) rs879254421
NM_000527.5(LDLR):c.169G>C (p.Asp57His)
NM_000527.5(LDLR):c.1706-5T>A rs1161843170
NM_000527.5(LDLR):c.1706A>T (p.Asp569Val) rs2147257169
NM_000527.5(LDLR):c.1708CTC[1] (p.Leu571del)
NM_000527.5(LDLR):c.170A>G (p.Asp57Gly) rs1555802310
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1732G>T (p.Val578Phe) rs1301458707
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del) rs2077473508
NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys) rs544456198
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.5(LDLR):c.1802A>G (p.Asp601Gly) rs879255027
NM_000527.5(LDLR):c.1808A>G (p.Lys603Arg) rs1302327551
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1843G>A (p.Glu615Lys) rs879255045
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1862C>T (p.Thr621Ile) rs879255058
NM_000527.5(LDLR):c.1867A>T (p.Ile623Phe)
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1883T>C (p.Ile628Thr) rs879255067
NM_000527.5(LDLR):c.190+4_190+7del rs2147210820
NM_000527.5(LDLR):c.1909T>A (p.Ser637Thr)
NM_000527.5(LDLR):c.1958_1959delinsCC (p.Val653Ala) rs2077526251
NM_000527.5(LDLR):c.1981C>G (p.Pro661Ala) rs1182317785
NM_000527.5(LDLR):c.1987+6G>C rs752382813
NM_000527.5(LDLR):c.1987G>A (p.Gly663Arg) rs878951797
NM_000527.5(LDLR):c.1990G>A (p.Val664Met) rs879255103
NM_000527.5(LDLR):c.1993A>T (p.Asn665Tyr) rs2077529922
NM_000527.5(LDLR):c.2009C>T (p.Thr670Ile)
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.202T>G (p.Cys68Gly) rs1057519652
NM_000527.5(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.5(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.5(LDLR):c.2059A>T (p.Ile687Phe) rs1060499932
NM_000527.5(LDLR):c.2068C>T (p.His690Tyr)
NM_000527.5(LDLR):c.2077A>C (p.Lys693Gln)
NM_000527.5(LDLR):c.2083A>C (p.Thr695Pro) rs1600744007
NM_000527.5(LDLR):c.2083A>G (p.Thr695Ala) rs1600744007
NM_000527.5(LDLR):c.2093G>C (p.Cys698Ser) rs879255136
NM_000527.5(LDLR):c.2124GAG[1] (p.Arg709del) rs2077535269
NM_000527.5(LDLR):c.2127_2128delinsCT (p.Arg709_Ser710delinsSerCys) rs2147266595
NM_000527.5(LDLR):c.2131T>C (p.Cys711Arg) rs879255144
NM_000527.5(LDLR):c.2138C>T (p.Thr713Ile)
NM_000527.5(LDLR):c.2141A>C (p.Glu714Ala)
NM_000527.5(LDLR):c.2161A>G (p.Thr721Ala) rs2077583367
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) rs879255154
NM_000527.5(LDLR):c.2234C>T (p.Pro745Leu)
NM_000527.5(LDLR):c.223T>G (p.Cys75Gly)
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.5(LDLR):c.2273G>T (p.Gly758Val)
NM_000527.5(LDLR):c.2291T>G (p.Ile764Arg) rs759440817
NM_000527.5(LDLR):c.2305C>T (p.His769Tyr)
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
NM_000527.5(LDLR):c.2320G>T (p.Asp774Tyr) rs138190838
NM_000527.5(LDLR):c.2326G>C (p.Ala776Pro)
NM_000527.5(LDLR):c.2330G>T (p.Gly777Val)
NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys) rs730882114
NM_000527.5(LDLR):c.2365G>T (p.Ala789Ser)
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly) rs1286799492
NM_000527.5(LDLR):c.236T>A (p.Val79Asp)
NM_000527.5(LDLR):c.2374A>G (p.Ile792Val)
NM_000527.5(LDLR):c.2381T>A (p.Leu794His)
NM_000527.5(LDLR):c.2386A>G (p.Ile796Val)
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389+5G>C rs879255191
NM_000527.5(LDLR):c.2389+5G>T rs879255191
NM_000527.5(LDLR):c.2389G>C (p.Val797Leu) rs750518671
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2408G>C (p.Cys803Ser)
NM_000527.5(LDLR):c.2408_2425dup (p.Leu808_Leu809insArgLeuGlyValPheLeu)
NM_000527.5(LDLR):c.2412G>A (p.Leu804=) rs2077686564
NM_000527.5(LDLR):c.2430G>C (p.Trp810Cys)
NM_000527.5(LDLR):c.2480T>A (p.Val827Asp) rs2077688361
NM_000527.5(LDLR):c.248T>C (p.Ile83Thr) rs1555802745
NM_000527.5(LDLR):c.2534A>G (p.Tyr845Cys) rs1568619827
NM_000527.5(LDLR):c.2547+5G>A rs879255226
NM_000527.5(LDLR):c.2547G>A (p.Ser849=) rs1249903899
NM_000527.5(LDLR):c.2549_2550del rs1555809910
NM_000527.5(LDLR):c.2551_2554del (p.Gln851fs) rs878854029
NM_000527.5(LDLR):c.2557G>C (p.Val853Leu)
NM_000527.5(LDLR):c.298G>A (p.Asp100Asn) rs879254459
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.5(LDLR):c.313+1_313+2dup rs2077233623
NM_000527.5(LDLR):c.313+3_313+6del rs2147217534
NM_000527.5(LDLR):c.313+5G>A
NM_000527.5(LDLR):c.313+5G>C rs879254467
NM_000527.5(LDLR):c.313+6T>G rs879254468
NM_000527.5(LDLR):c.314-3C>A
NM_000527.5(LDLR):c.317C>G (p.Pro106Arg) rs1365623011
NM_000527.5(LDLR):c.31A>T (p.Thr11Ser) rs1600683674
NM_000527.5(LDLR):c.323C>A (p.Thr108Lys) rs750126678
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) rs869320648
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.368C>G (p.Ser123Cys) rs2077268470
NM_000527.5(LDLR):c.385G>A (p.Asp129Asn) rs2077269298
NM_000527.5(LDLR):c.386A>C (p.Asp129Ala)
NM_000527.5(LDLR):c.387C>G (p.Asp129Glu)
NM_000527.5(LDLR):c.394C>G (p.Arg132Gly) rs368978979
NM_000527.5(LDLR):c.394C>T (p.Arg132Trp) rs368978979
NM_000527.5(LDLR):c.397G>A (p.Asp133Asn) rs879254513
NM_000527.5(LDLR):c.425C>T (p.Ser142Phe)
NM_000527.5(LDLR):c.451G>T (p.Ala151Ser)
NM_000527.5(LDLR):c.466_471del (p.Asn156_Ser157del)
NM_000527.5(LDLR):c.482T>A (p.Ile161Asn) rs754933794
NM_000527.5(LDLR):c.494G>T (p.Trp165Leu)
NM_000527.5(LDLR):c.497C>A (p.Ala166Asp)
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.5(LDLR):c.509A>G (p.Asp170Gly)
NM_000527.5(LDLR):c.511C>A (p.Pro171Thr)
NM_000527.5(LDLR):c.536A>C (p.Glu179Ala)
NM_000527.5(LDLR):c.547C>A (p.Arg183Ser) rs757292254
NM_000527.5(LDLR):c.553A>T (p.Arg185Trp) rs2147224605
NM_000527.5(LDLR):c.562T>G (p.Tyr188Asp)
NM_000527.5(LDLR):c.574G>C (p.Gly192Arg) rs2077276377
NM_000527.5(LDLR):c.585C>A (p.Ser195Arg) rs756880555
NM_000527.5(LDLR):c.605T>G (p.Phe202Cys) rs879254590
NM_000527.5(LDLR):c.613C>G (p.Leu205Val) rs1131692196
NM_000527.5(LDLR):c.629T>A (p.Ile210Asn) rs879254601
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.639C>G (p.Ser213Arg) rs760616999
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg) rs1600711159
NM_000527.5(LDLR):c.650A>G (p.Asp217Gly) rs2077279531
NM_000527.5(LDLR):c.650A>T (p.Asp217Val) rs2077279531
NM_000527.5(LDLR):c.658_659delinsTGTGATGG (p.Pro220delinsCysAspGly)
NM_000527.5(LDLR):c.665_673dup (p.Asp224_Lys225insSerLysAsp) rs2147225506
NM_000527.5(LDLR):c.666C>T (p.Cys222=) rs756613387
NM_000527.5(LDLR):c.67+6G>T
NM_000527.5(LDLR):c.673_675inv (p.Lys225Phe)
NM_000527.5(LDLR):c.676_677delinsAA (p.Ser226Asn) rs2147225692
NM_000527.5(LDLR):c.677C>T (p.Ser226Phe)
NM_000527.5(LDLR):c.694+6G>A rs1019330092
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser) rs72658857
NM_000527.5(LDLR):c.706T>A (p.Cys236Ser) rs879254655
NM_000527.5(LDLR):c.715G>A (p.Asp239Asn)
NM_000527.5(LDLR):c.750T>A (p.His250Gln) rs141929940
NM_000527.5(LDLR):c.750T>C (p.His250=) rs141929940
NM_000527.5(LDLR):c.780C>A (p.Asp260Glu) rs2077300275
NM_000527.5(LDLR):c.802G>A (p.Val268Ile)
NM_000527.5(LDLR):c.80G>A (p.Cys27Tyr)
NM_000527.5(LDLR):c.845T>C (p.Phe282Ser) rs2077311848
NM_000527.5(LDLR):c.848A>C (p.Lys283Thr)
NM_000527.5(LDLR):c.887G>C (p.Cys296Ser) rs879254707
NM_000527.5(LDLR):c.895G>A (p.Ala299Thr) rs879254711
NM_000527.5(LDLR):c.904T>G (p.Cys302Gly) rs1555803891
NM_000527.5(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.5(LDLR):c.915G>T (p.Trp305Cys) rs757252110
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.935A>G (p.Glu312Gly)
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_000527.5(LDLR):c.940+6T>C
NM_000527.5(LDLR):c.941-7T>G
NM_000527.5(LDLR):c.965A>T (p.Asn322Ile) rs879254742
NM_000527.5(LDLR):c.966C>A (p.Asn322Lys) rs567080879
NM_000527.5(LDLR):c.980A>C (p.His327Pro) rs2077361686

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