ClinVar Miner

List of variants in gene LDLR reported by Iberoamerican FH Network

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Gene type:
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Total variants: 116
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HGVS dbSNP
FH Bologna 2
FH Vancouver 6
GRCh37/hg19 19p13.2(chr19:11210898-11222316)
NM_000527.4(LDLR):c.-135C>A rs879254375
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-140C>A
NM_000527.4(LDLR):c.-227G>C rs1555800612
NM_000527.4(LDLR):c.1009G>A (p.Glu337Lys) rs539080792
NM_000527.4(LDLR):c.1078G>C (p.Asp360His) rs777926251
NM_000527.4(LDLR):c.1461dup (p.Ile488fs) rs1555805409
NM_000527.4(LDLR):c.1462_1463insC (p.Ile488fs) rs1555805413
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.4(LDLR):c.170A>C (p.Asp57Ala) rs1555802310
NM_000527.4(LDLR):c.1778del (p.Gly593fs) rs875989931
NM_000527.4(LDLR):c.1895A>T (p.Asn632Ile) rs1202258257
NM_000527.4(LDLR):c.2448G>C (p.Lys816Asn) rs1399689294
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.428G>T (p.Cys143Phe) rs879254522
NM_000527.4(LDLR):c.68-?_1586+?del
NM_000527.4(LDLR):c.684G>C (p.Glu228Asp) rs1208216597
NM_000527.4(LDLR):c.823_824CT[1] (p.Cys276fs) rs879254691
NM_000527.4(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.4(LDLR):c.940+36G>A rs13306513
NM_000527.4(LDLR):c.954C>A (p.Cys318Ter) rs1323416354
NM_000527.5(LDLR):c.1003G>A (p.Gly335Ser) rs544453230
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1034dup (p.Leu346fs) rs879254762
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1069G>A (p.Glu357Lys) rs879254781
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1103G>A (p.Cys368Tyr)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.11G>A (p.Trp4Ter) rs201016593
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1216C>T (p.Arg406Trp)
NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)
NM_000527.5(LDLR):c.1285G>A (p.Val429Met)
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.12G>A (p.Trp4Ter) rs756039188
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.5(LDLR):c.1328G>A (p.Trp443Ter) rs879254866
NM_000527.5(LDLR):c.1342C>T (p.Gln448Ter)
NM_000527.5(LDLR):c.1352T>C (p.Ile451Thr)
NM_000527.5(LDLR):c.139G>A (p.Asp47Asn)
NM_000527.5(LDLR):c.1415_1418dup (p.Gln474fs) rs879254892
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025
NM_000527.5(LDLR):c.1637G>T (p.Gly546Val) rs28942081
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1705+1G>A rs875989926
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1999T>C (p.Cys667Arg)
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2061dup (p.Asn688fs) rs137853965
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2264_2273del (p.Ala755fs) rs879255168
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389G>A (p.Val797Met)
NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)
NM_000527.5(LDLR):c.241C>T (p.Arg81Cys)
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.5(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.5(LDLR):c.311G>T (p.Cys104Phe) rs875989895
NM_000527.5(LDLR):c.313+1G>C rs112029328
NM_000527.5(LDLR):c.313+2dup rs875989897
NM_000527.5(LDLR):c.337G>T (p.Glu113Ter)
NM_000527.5(LDLR):c.339dup (p.Phe114fs) rs879254481
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.5(LDLR):c.418G>A (p.Glu140Lys)
NM_000527.5(LDLR):c.418G>T (p.Glu140Ter) rs748944640
NM_000527.5(LDLR):c.517T>G (p.Cys173Gly) rs879254558
NM_000527.5(LDLR):c.532_533insT (p.Asp178fs) rs879254564
NM_000527.5(LDLR):c.535G>T (p.Glu179Ter) rs879254567
NM_000527.5(LDLR):c.581_582insA (p.Ser194fs) rs879254581
NM_000527.5(LDLR):c.590G>A (p.Cys197Tyr) rs376459828
NM_000527.5(LDLR):c.601G>A (p.Glu201Lys) rs879254589
NM_000527.5(LDLR):c.621C>T (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.643C>A (p.Arg215Ser) rs764042910
NM_000527.5(LDLR):c.646T>C (p.Cys216Arg) rs879254610
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.666C>G (p.Cys222Trp) rs756613387
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.690C>T (p.Asn230=) rs879254643
NM_000527.5(LDLR):c.695-1G>T rs879254652
NM_000527.5(LDLR):c.727T>C (p.Cys243Arg) rs879254659
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.846C>A (p.Phe282Leu) rs730882090
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.5(LDLR):c.865T>C (p.Cys289Arg) rs879254697
NM_000527.5(LDLR):c.887G>A (p.Cys296Tyr) rs879254707
NM_000527.5(LDLR):c.941-12G>A rs879254734
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.953G>A (p.Cys318Tyr) rs879254739
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.977C>G (p.Ser326Cys)
NM_000527.5(LDLR):c.980dup (p.His327fs) rs879254748
NM_001195798.2(LDLR):c.2231_2232delinsAG (p.Arg744Gln) rs1555808091
NM_001195798.2(LDLR):c.2271del (p.Leu759fs)
NM_001195800.2(LDLR):c.314-1832_314-1830del rs121908027
NM_001195803.2(LDLR):c.1606+203del rs879255122
c.(1186+1_1187-1)_(1586+1_1587-1)del

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