ClinVar Miner

List of variants in gene LDLR reported by Iberoamerican FH Network

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 116
Download table as spreadsheet
HGVS dbSNP
FH Bologna 2
FH Vancouver 6
NC_000019.9:g.(11200292_11210898)_(11222316_11223953)dup
NC_000019.9:g.(11222316_11223953)_(11224439_11226769)del
NM_000527.4(LDLR):c.-135C>A rs879254375
NM_000527.4(LDLR):c.-135C>G rs879254375
NM_000527.4(LDLR):c.-140C>A rs875989887
NM_000527.4(LDLR):c.-227G>C rs1555800612
NM_000527.4(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.4(LDLR):c.1009G>A (p.Glu337Lys) rs539080792
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1034dup (p.Leu346Alafs) rs879254762
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.4(LDLR):c.1078G>C (p.Asp360His) rs777926251
NM_000527.4(LDLR):c.1090T>C (p.Cys364Arg) rs879254787
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1118G>A (p.Gly373Asp) rs879254797
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.4(LDLR):c.1201C>G (p.Leu401Val) rs146200173
NM_000527.4(LDLR):c.1216C>T (p.Arg406Trp) rs121908043
NM_000527.4(LDLR):c.1252G>A (p.Glu418Lys) rs869320651
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1291G>A (p.Ala431Thr) rs28942079
NM_000527.4(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.4(LDLR):c.1342C>T (p.Gln448Ter) rs879254871
NM_000527.4(LDLR):c.1352T>C (p.Ile451Thr) rs879254874
NM_000527.4(LDLR):c.139G>A (p.Asp47Asn) rs778284147
NM_000527.4(LDLR):c.1415_1418dupACAT (p.Gln474Hisfs) rs879254892
NM_000527.4(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.4(LDLR):c.1461dup (p.Ile488Hisfs) rs1555805409
NM_000527.4(LDLR):c.1462_1463insC (p.Ile488Thrfs) rs1555805413
NM_000527.4(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.4(LDLR):c.1567G>A (p.Val523Met) rs28942080
NM_000527.4(LDLR):c.1586G>A (p.Gly529Asp) rs878854025
NM_000527.4(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1705+1G>A rs875989926
NM_000527.4(LDLR):c.1706-10G>A rs17248882
NM_000527.4(LDLR):c.170A>C (p.Asp57Ala) rs1555802310
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.1778del (p.Gly593Alafs) rs875989931
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.4(LDLR):c.1801G>C (p.Asp601His) rs753707206
NM_000527.4(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.4(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.4(LDLR):c.1895A>T (p.Asn632Ile) rs1202258257
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1999T>C (p.Cys667Arg) rs150021927
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.2054delC (p.Pro685Argfs) rs879255122
NM_000527.4(LDLR):c.2061dupC (p.Asn688Glnfs) rs137853965
NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) rs45508991
NM_000527.4(LDLR):c.2231_2232delGAinsAG (p.Arg744Gln) rs1555808091
NM_000527.4(LDLR):c.2264_2273delCCACCCCTGG (p.Ala755Glyfs) rs879255168
NM_000527.4(LDLR):c.2271delT (p.Leu759Serfs) rs875989940
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2397_2405delCGTCTTCCT (p.Val800_Leu802del) rs875989944
NM_000527.4(LDLR):c.241C>T (p.Arg81Cys) rs730882078
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.4(LDLR):c.313+1G>A rs112029328
NM_000527.4(LDLR):c.313+1G>C rs112029328
NM_000527.4(LDLR):c.313+2dupT rs875989897
NM_000527.4(LDLR):c.337G>T (p.Glu113Ter) rs769383881
NM_000527.4(LDLR):c.339dup (p.Phe114Valfs) rs879254481
NM_000527.4(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.4(LDLR):c.418G>A (p.Glu140Lys) rs748944640
NM_000527.4(LDLR):c.418G>T (p.Glu140Ter) rs748944640
NM_000527.4(LDLR):c.428G>T (p.Cys143Phe) rs879254522
NM_000527.4(LDLR):c.517T>G (p.Cys173Gly) rs879254558
NM_000527.4(LDLR):c.532_533insT (p.Asp178Valfs) rs879254564
NM_000527.4(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.4(LDLR):c.581_582insA (p.Ser194Argfs) rs879254581
NM_000527.4(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.4(LDLR):c.601G>A (p.Glu201Lys) rs879254589
NM_000527.4(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.4(LDLR):c.643C>A (p.Arg215Ser) rs764042910
NM_000527.4(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.4(LDLR):c.654_656delTGG (p.Gly219del) rs121908027
NM_000527.4(LDLR):c.662A>G (p.Asp221Gly) rs373822756
NM_000527.4(LDLR):c.666C>G (p.Cys222Trp) rs756613387
NM_000527.4(LDLR):c.68-?_1586+?del
NM_000527.4(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.4(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.4(LDLR):c.695-1G>T rs879254652
NM_000527.4(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) rs143992984
NM_000527.4(LDLR):c.825_826delCT (p.Cys276Argfs) rs879254691
NM_000527.4(LDLR):c.829G>A (p.Glu277Lys) rs148698650
NM_000527.4(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.4(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.4(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.4(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.4(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.4(LDLR):c.940+36G>A rs13306513
NM_000527.4(LDLR):c.941-12G>A rs879254734
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.4(LDLR):c.954C>A (p.Cys318Ter) rs1323416354
NM_000527.4(LDLR):c.970G>A (p.Gly324Ser) rs72658860
NM_000527.4(LDLR):c.977C>G (p.Ser326Cys) rs879254747
NM_000527.4(LDLR):c.980dup (p.His327Glnfs) rs879254748

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.