ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Invitae

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Total variants: 132
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HGVS dbSNP
NC_000019.9:g.(?_11233830)_(11242035_?)dup
NM_000527.4(LDLR):c.-156C>T rs879254364
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.1009G>A (p.Glu337Lys) rs539080792
NM_000527.4(LDLR):c.1080T>G (p.Asp360Glu) rs749322464
NM_000527.4(LDLR):c.1098_1109del (p.Gln366_Asn370delinsHis) rs878854024
NM_000527.4(LDLR):c.1118G>C (p.Gly373Ala) rs879254797
NM_000527.4(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.4(LDLR):c.1186+5G>C rs879254821
NM_000527.4(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.4(LDLR):c.1300A>C (p.Thr434Pro) rs1555805237
NM_000527.4(LDLR):c.1335C>G (p.Asp445Glu) rs749780672
NM_000527.4(LDLR):c.1336C>A (p.Leu446Met) rs375651668
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.1408A>T (p.Ser470Cys) rs1057516128
NM_000527.4(LDLR):c.1562C>T (p.Ala521Val) rs770696696
NM_000527.4(LDLR):c.1564A>C (p.Ile522Leu) rs774337050
NM_000527.4(LDLR):c.1574A>C (p.Asp525Ala) rs879254943
NM_000527.4(LDLR):c.1588T>G (p.Phe530Val) rs875989924
NM_000527.4(LDLR):c.1595A>G (p.Tyr532Cys) rs1060499925
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.1706-5T>A rs1161843170
NM_000527.4(LDLR):c.1739C>T (p.Ser580Phe) rs934496989
NM_000527.4(LDLR):c.1771A>G (p.Asn591Asp) rs140644832
NM_000527.4(LDLR):c.1774G>A (p.Gly592Arg) rs763147599
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp)
NM_000527.4(LDLR):c.1819C>T (p.His607Tyr) rs1555806536
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.1868T>C (p.Ile623Thr) rs141155833
NM_000527.4(LDLR):c.1987G>A (p.Gly663Arg) rs878951797
NM_000527.4(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.4(LDLR):c.2039T>C (p.Leu680Pro) rs1555807379
NM_000527.4(LDLR):c.2048C>T (p.Pro683Leu) rs766765648
NM_000527.4(LDLR):c.2324T>C (p.Val775Ala) rs780300776
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389+5G>C rs879255191
NM_000527.4(LDLR):c.2389G>C (p.Val797Leu) rs750518671
NM_000527.4(LDLR):c.299A>T (p.Asp100Val) rs879254460
NM_000527.4(LDLR):c.31A>T (p.Thr11Ser) rs1600683674
NM_000527.4(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.4(LDLR):c.398A>C (p.Asp133Ala) rs1317204420
NM_000527.4(LDLR):c.500G>C (p.Cys167Ser) rs879254548
NM_000527.4(LDLR):c.585C>A (p.Ser195Arg) rs756880555
NM_000527.4(LDLR):c.605T>G (p.Phe202Cys) rs879254590
NM_000527.4(LDLR):c.643C>T (p.Arg215Cys) rs764042910
NM_000527.4(LDLR):c.731C>G (p.Ser244Cys) rs1208667598
NM_000527.4(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.4(LDLR):c.861C>T (p.Gly287=) rs770191650
NM_000527.4(LDLR):c.904T>G (p.Cys302Gly) rs1555803891
NM_000527.5(LDLR):c.1006T>G (p.Tyr336Asp)
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>A
NM_000527.5(LDLR):c.1179G>T (p.Lys393Asn)
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.5(LDLR):c.1255T>C (p.Tyr419His) rs879254847
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) rs879254911
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048
NM_000527.5(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1721G>T (p.Arg574Leu) rs777188764
NM_000527.5(LDLR):c.1727A>G (p.Tyr576Cys) rs879254999
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.5(LDLR):c.1773_1776delinsT (p.Gly593del)
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro)
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.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.5(LDLR):c.1993A>T (p.Asn665Tyr)
NM_000527.5(LDLR):c.2023G>A (p.Gly675Ser) rs770744861
NM_000527.5(LDLR):c.202T>G (p.Cys68Gly)
NM_000527.5(LDLR):c.2041T>G (p.Cys681Gly) rs879255118
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452
NM_000527.5(LDLR):c.2083A>G (p.Thr695Ala)
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile)
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970
NM_000527.5(LDLR):c.2320G>T (p.Asp774Tyr)
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly)
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.2480T>A (p.Val827Asp)
NM_000527.5(LDLR):c.2547G>A (p.Ser849=)
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg)
NM_000527.5(LDLR):c.257_265del (p.Phe86_Arg88del) rs879254451
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.313C>T (p.Pro105Ser) rs13306510
NM_000527.5(LDLR):c.323C>A (p.Thr108Lys)
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.367T>C (p.Ser123Pro) rs879254495
NM_000527.5(LDLR):c.385G>A (p.Asp129Asn)
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.565G>C (p.Val189Leu)
NM_000527.5(LDLR):c.574G>C (p.Gly192Arg)
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.640T>C (p.Trp214Arg) rs1600711159
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282
NM_000527.5(LDLR):c.679G>A (p.Asp227Asn)
NM_000527.5(LDLR):c.694G>T (p.Ala232Ser) rs72658857
NM_000527.5(LDLR):c.709C>T (p.Arg237Cys) rs879254657
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.750T>A (p.His250Gln)
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln)
NM_000527.5(LDLR):c.774A>G (p.Glu258=)
NM_000527.5(LDLR):c.788A>G (p.Asp263Gly)
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.887G>T (p.Cys296Phe)
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122
NM_000527.5(LDLR):c.919G>A (p.Asp307Asn) rs879254719
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.939C>G (p.Cys313Trp) rs13306512
NM_001195798.2(LDLR):c.168_170TGA[1] (p.Asp57del) rs879254421
NM_001195798.2(LDLR):c.2548-3_2548del rs878854029

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