ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by Fundacion Hipercolesterolemia Familiar

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Gene type:
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Total variants: 109
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HGVS dbSNP
FH Bologna 2
FH Vancouver 4
NM_000527.4(LDLR):c.-136C>G rs879254374
NM_000527.4(LDLR):c.-140C>G rs875989887
NM_000527.4(LDLR):c.-155_-154delinsTTCTGCAAACTCCT rs879254365
NM_000527.4(LDLR):c.-228G>C rs376713337
NM_000527.4(LDLR):c.-23A>C rs763282380
NM_000527.4(LDLR):c.1019G>A (p.Cys340Tyr) rs755757866
NM_000527.4(LDLR):c.1027G>A (p.Gly343Ser) rs730882096
NM_000527.4(LDLR):c.1045C>T (p.Gln349Ter) rs748300548
NM_000527.4(LDLR):c.1060+10G>A rs12710260
NM_000527.4(LDLR):c.1061-?_1586+?del
NM_000527.4(LDLR):c.1066G>C (p.Asp356His) rs767767730
NM_000527.4(LDLR):c.1066G>T (p.Asp356Tyr) rs767767730
NM_000527.4(LDLR):c.1103G>A (p.Cys368Tyr) rs768430352
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1156G>T (p.Asp386Tyr) rs1402951356
NM_000527.4(LDLR):c.1186+5G>A rs879254821
NM_000527.4(LDLR):c.1187-?_1845+?del
NM_000527.4(LDLR):c.118A>G (p.Ile40Val) rs765969972
NM_000527.4(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.1217G>A (p.Arg406Gln) rs552422789
NM_000527.4(LDLR):c.131G>T (p.Trp44Leu) rs267607213
NM_000527.4(LDLR):c.1328G>C (p.Trp443Ser) rs879254866
NM_000527.4(LDLR):c.1359-?_1586+?del
NM_000527.4(LDLR):c.1432G>A (p.Gly478Arg) rs144614838
NM_000527.4(LDLR):c.1474G>A (p.Asp492Asn) rs373646964
NM_000527.4(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000527.4(LDLR):c.1510A>G (p.Lys504Glu) rs730882103
NM_000527.4(LDLR):c.1585G>C (p.Gly529Arg) rs730882108
NM_000527.4(LDLR):c.1586+5G>A rs781362878
NM_000527.4(LDLR):c.1587-?_2140+?del
NM_000527.4(LDLR):c.1587-?_2311+?del
NM_000527.4(LDLR):c.1661C>T (p.Ser554Leu) rs879254976
NM_000527.4(LDLR):c.1706-?_1845+?del
NM_000527.4(LDLR):c.1706-?_2311+?del
NM_000527.4(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.4(LDLR):c.1721G>A (p.Arg574His) rs777188764
NM_000527.4(LDLR):c.1750T>C (p.Ser584Pro) rs879255010
NM_000527.4(LDLR):c.1765G>T (p.Asp589Tyr) rs201971888
NM_000527.4(LDLR):c.1783C>T (p.Arg595Trp) rs373371572
NM_000527.4(LDLR):c.1800G>C (p.Glu600Asp) rs764104777
NM_000527.4(LDLR):c.1846-?_1987+?del
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1865A>G (p.Asp622Gly) rs879255060
NM_000527.4(LDLR):c.188G>A (p.Cys63Tyr) rs879254427
NM_000527.4(LDLR):c.1898G>A (p.Arg633His) rs754536745
NM_000527.4(LDLR):c.191-?_313+?dup
NM_000527.4(LDLR):c.191-?_940+?del
NM_000527.4(LDLR):c.1920C>T (p.Asn640=) rs5926
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1981C>A (p.Pro661Thr) rs1182317785
NM_000527.4(LDLR):c.2026G>A (p.Gly676Ser) rs745753810
NM_000527.4(LDLR):c.2086T>C (p.Cys696Arg) rs1555807435
NM_000527.4(LDLR):c.2096C>T (p.Pro699Leu) rs201573863
NM_000527.4(LDLR):c.2099A>G (p.Asp700Gly) rs879255139
NM_000527.4(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.4(LDLR):c.2119G>T (p.Asp707Tyr) rs879255142
NM_000527.4(LDLR):c.2279C>T (p.Thr760Ile) rs1555808147
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2312-?_2547+?del
NM_000527.4(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.4(LDLR):c.2375T>C (p.Ile792Thr) rs764493597
NM_000527.4(LDLR):c.2389+3A>C rs879255189
NM_000527.4(LDLR):c.2389+4A>G rs758493597
NM_000527.4(LDLR):c.2389G>A (p.Val797Met) rs750518671
NM_000527.4(LDLR):c.2390-?_2547+?del
NM_000527.4(LDLR):c.240C>A (p.Asn80Lys) rs879254444
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.283T>G (p.Cys95Gly) rs879254456
NM_000527.4(LDLR):c.284G>A (p.Cys95Tyr) rs879254457
NM_000527.4(LDLR):c.2T>C (p.Met1Thr) rs1555800701
NM_000527.4(LDLR):c.313+5G>A rs879254467
NM_000527.4(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.4(LDLR):c.47T>C (p.Leu16Pro) rs879254391
NM_000527.4(LDLR):c.48C>A (p.Leu16=) rs565675103
NM_000527.4(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.4(LDLR):c.58G>A (p.Gly20Arg) rs147509697
NM_000527.4(LDLR):c.695-?_817+?del
NM_000527.4(LDLR):c.706T>A (p.Cys236Ser) rs879254655
NM_000527.4(LDLR):c.737G>A (p.Gly246Glu) rs879254661
NM_000527.4(LDLR):c.769C>T (p.Arg257Trp) rs200990725
NM_000527.4(LDLR):c.800A>C (p.Glu267Ala) rs879254680
NM_000527.4(LDLR):c.818-?_940+?del
NM_000527.4(LDLR):c.835C>T (p.Pro279Ser) rs1555803827
NM_000527.4(LDLR):c.866G>A (p.Cys289Tyr) rs1555803865
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.890A>C (p.Asn297Thr) rs1555803887
NM_000527.4(LDLR):c.890A>G (p.Asn297Ser) rs1555803887
NM_000527.4(LDLR):c.905G>A (p.Cys302Tyr) rs879254715
NM_000527.4(LDLR):c.919G>T (p.Asp307Tyr) rs879254719
NM_000527.4(LDLR):c.937T>C (p.Cys313Arg) rs879254728
NM_000527.4(LDLR):c.941-39C>T rs55792959
NM_000527.4(LDLR):c.941-?_1060+?del
NM_000527.4(LDLR):c.941-?_1586+?del
NM_000527.4(LDLR):c.941-?_1586+?dup
NM_000527.4(LDLR):c.941-?_1705+?dup
NM_000527.4(LDLR):c.941-?_1845+?del
NM_000527.4(LDLR):c.941-?_1845+?dup
NM_000527.4:c.-30-?_190+?dup
NM_000527.4:c.-30-?_313+?dup
NM_000527.4:c.191-?_2583+?del
NM_000527.4:c.2390-?_2583+?del
NM_000527.4:c.2548-?_2583+?del
NM_000527.4:c.314-?_2583+?del
c.(?_-187)_(190+1_191-1)del

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