ClinVar Miner

List of variants in gene LDLR reported as uncertain significance by LDLR-LOVD, British Heart Foundation

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Gene type:
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Total variants: 113
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HGVS dbSNP
NM_000527.4(LDLR):c.-137C>T rs879254373
NM_000527.4(LDLR):c.-139C>A rs879254371
NM_000527.4(LDLR):c.-142C>T rs879254370
NM_000527.4(LDLR):c.-146C>A rs879254369
NM_000527.4(LDLR):c.-149C>A rs879254368
NM_000527.4(LDLR):c.-14C>A rs879254380
NM_000527.4(LDLR):c.-153C>T rs879254366
NM_000527.4(LDLR):c.-188C>T rs878854023
NM_000527.4(LDLR):c.-193_-186delinsTG rs879254362
NM_000527.4(LDLR):c.-206C>T rs549995837
NM_000527.4(LDLR):c.-221_-220insA rs879254359
NM_000527.4(LDLR):c.-22del rs879254379
NM_000527.4(LDLR):c.-23A>C rs763282380
NM_000527.4(LDLR):c.-5C>T rs879254381
NM_000527.4(LDLR):c.-68A>C rs879254377
NM_000527.4(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.4(LDLR):c.1057G>A (p.Glu353Lys) rs370471092
NM_000527.4(LDLR):c.1068delinsAGAGTGTCAGGATCCCGAC (p.Asp356_Glu357insGluGluCysGlnAspPro) rs879254779
NM_000527.4(LDLR):c.1076_1081del (p.Gln359_Asp360del) rs879254785
NM_000527.4(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.4(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.4(LDLR):c.1204_1206TTC[1] (p.Phe403del) rs879254830
NM_000527.4(LDLR):c.1214A>C (p.Asn405Thr) rs879254836
NM_000527.4(LDLR):c.1244A>T (p.Asp415Val) rs879254845
NM_000527.4(LDLR):c.1283A>G (p.Asn428Ser) rs879254852
NM_000527.4(LDLR):c.1284C>G (p.Asn428Lys) rs368708058
NM_000527.4(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.4(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.4(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
NM_000527.4(LDLR):c.1318A>G (p.Arg440Gly) rs879254861
NM_000527.4(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.4(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.4(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.4(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.4(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.4(LDLR):c.1460_1462del (p.Asn487del) rs879254911
NM_000527.4(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.4(LDLR):c.1519A>G (p.Lys507Glu) rs879254928
NM_000527.4(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.4(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.4(LDLR):c.1561G>A (p.Ala521Thr) rs879254940
NM_000527.4(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.4(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974
NM_000527.4(LDLR):c.1690A>C (p.Asn564His) rs397509365
NM_000527.4(LDLR):c.1735_1736insTCG (p.Val578dup) rs879255002
NM_000527.4(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.4(LDLR):c.1765G>A (p.Asp589Asn) rs201971888
NM_000527.4(LDLR):c.1776_1778del (p.Gly593del) rs875989931
NM_000527.4(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.4(LDLR):c.1793T>C (p.Ile598Thr) rs879255024
NM_000527.4(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.4(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.4(LDLR):c.1816G>T (p.Ala606Ser) rs72658865
NM_000527.4(LDLR):c.1833_1841del (p.Leu611_Val613del) rs879255040
NM_000527.4(LDLR):c.1845+15C>A rs759867686
NM_000527.4(LDLR):c.185C>T (p.Thr62Met) rs376207800
NM_000527.4(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.4(LDLR):c.190+4A>T rs769446356
NM_000527.4(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.4(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.4(LDLR):c.1927G>C (p.Ala643Pro) rs879255074
NM_000527.4(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.4(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
NM_000527.4(LDLR):c.1951G>A (p.Asp651Asn) rs730882110
NM_000527.4(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.4(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.4(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.4(LDLR):c.1988-5C>G rs375877599
NM_000527.4(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.4(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.4(LDLR):c.2098G>A (p.Asp700Asn) rs375009082
NM_000527.4(LDLR):c.2113G>C (p.Ala705Pro) rs193922570
NM_000527.4(LDLR):c.2198C>T (p.Ser733Phe) rs879255162
NM_000527.4(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.4(LDLR):c.2296A>G (p.Thr766Ala) rs879255171
NM_000527.4(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.4(LDLR):c.2311+1941_*1216dup
NM_000527.4(LDLR):c.2322_2342del (p.Asp774_Asn780del) rs879255179
NM_000527.4(LDLR):c.2356A>T (p.Ser786Cys) rs730882114
NM_000527.4(LDLR):c.2389+3A>C rs879255189
NM_000527.4(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.4(LDLR):c.2411T>C (p.Leu804Pro) rs879255203
NM_000527.4(LDLR):c.2458_2466del (p.Ser820_Asn822del) rs879255214
NM_000527.4(LDLR):c.2547+3G>C rs879255225
NM_000527.4(LDLR):c.314-3C>T rs879254469
NM_000527.4(LDLR):c.337G>A (p.Glu113Lys) rs769383881
NM_000527.4(LDLR):c.445G>T (p.Gly149Cys) rs879254529
NM_000527.4(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.4(LDLR):c.451G>C (p.Ala151Pro) rs763233960
NM_000527.4(LDLR):c.56C>A (p.Ala19Glu) rs879254392
NM_000527.4(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.4(LDLR):c.694+8_694+18dup rs777512182
NM_000527.4(LDLR):c.757C>T (p.Arg253Trp) rs150673992
NM_000527.4(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.4(LDLR):c.850T>A (p.Cys284Ser) rs879254693
NM_000527.4(LDLR):c.851G>C (p.Cys284Ser) rs879254694
NM_000527.4(LDLR):c.869_871dup (p.Ile290dup) rs879254698
NM_000527.4(LDLR):c.889A>C (p.Asn297His) rs879254709
NM_000527.4(LDLR):c.898A>G (p.Arg300Gly) rs767618089
NM_000527.4(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.4(LDLR):c.941-13T>A rs879254733
NM_001195798.2(LDLR):c.1381G>T (p.Gly461Cys) rs193922568
NM_001195798.2(LDLR):c.1567G>T (p.Val523Leu) rs28942080
NM_001195798.2(LDLR):c.1618_1620del (p.Ala540del) rs879254961
NM_001195798.2(LDLR):c.2548-5G>A rs879255228
NM_001195798.2(LDLR):c.940G>A (p.Gly314Arg) rs72658858
NM_001195799.2(LDLR):c.190+2383G>T rs879254450
NM_001195799.2(LDLR):c.190+2392G>C rs879254454
NM_001195800.2(LDLR):c.314-1855C>G rs771917370
NM_001195800.2(LDLR):c.314-1865C>G rs121908044
NM_001195800.2(LDLR):c.314-1887T>G rs879254586
NM_001195800.2(LDLR):c.314-2163C>T rs750126678
NM_001195803.2(LDLR):c.1606+146G>T rs879255105

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