ClinVar Miner

List of variants reported as uncertain significance for Hypercholesterolemia, familial, 1 by LDLR-LOVD, British Heart Foundation

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 112
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.1988-5C>G rs375877599 0.00006
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn) rs375009082 0.00006
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254 0.00006
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NC_000019.10:g.11089396C>T rs879254366 0.00002
NM_000527.5(LDLR):c.-23A>C rs763282380 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000527.5(LDLR):c.-14C>A rs879254380 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1658A>G (p.Tyr553Cys) rs879254974 0.00001
NM_000527.5(LDLR):c.190+4A>T rs769446356 0.00001
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn) rs730882110 0.00001
NM_000527.5(LDLR):c.2113G>C (p.Ala705Pro) rs193922570 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.451G>C (p.Ala151Pro) rs763233960 0.00001
NM_000527.5(LDLR):c.889A>C (p.Asn297His) rs879254709 0.00001
NM_000527.5(LDLR):c.898A>G (p.Arg300Gly) rs767618089 0.00001
NC_000019.10:g.11089343C>T rs549995837
NC_000019.10:g.11089356_11089363delinsTG rs879254362
NC_000019.10:g.11089400C>A rs879254368
NC_000019.10:g.11089403C>A rs879254369
NC_000019.10:g.11089407C>T rs879254370
NC_000019.10:g.11089410C>A rs879254371
NC_000019.10:g.11089412C>T rs879254373
NM_000527.4(LDLR):c.-221_-220insA rs879254359
NM_000527.4(LDLR):c.1690A>C (p.Asn564His)
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-22del rs879254379
NM_000527.5(LDLR):c.-5C>T rs879254381
NM_000527.5(LDLR):c.-68A>C rs879254377
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1068delinsAGAGTGTCAGGATCCCGAC (p.Ile355_Asp356insGluGluCysGlnAspPro) rs879254779
NM_000527.5(LDLR):c.1076_1081del (p.Gln359_Asp360del) rs879254785
NM_000527.5(LDLR):c.1199_1207del (p.Tyr400_Phe402del) rs879254826
NM_000527.5(LDLR):c.1204TTC[1] (p.Phe403del) rs879254830
NM_000527.5(LDLR):c.1214A>C (p.Asn405Thr) rs879254836
NM_000527.5(LDLR):c.1244A>T (p.Asp415Val) rs879254845
NM_000527.5(LDLR):c.1283A>G (p.Asn428Ser) rs879254852
NM_000527.5(LDLR):c.1301C>G (p.Thr434Arg) rs745343524
NM_000527.5(LDLR):c.1317T>G (p.Asn439Lys) rs879254860
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) rs879254861
NM_000527.5(LDLR):c.1394A>G (p.Tyr465Cys) rs879254889
NM_000527.5(LDLR):c.1418T>A (p.Ile473Asn) rs879254895
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1449G>T (p.Trp483Cys) rs879254907
NM_000527.5(LDLR):c.1460A>G (p.Asn487Ser) rs879254912
NM_000527.5(LDLR):c.1460_1462del (p.Asn487del) rs879254911
NM_000527.5(LDLR):c.1504G>T (p.Asp502Tyr) rs879254925
NM_000527.5(LDLR):c.1519A>G (p.Lys507Glu) rs879254928
NM_000527.5(LDLR):c.1549T>C (p.Ser517Pro) rs879254936
NM_000527.5(LDLR):c.1552A>G (p.Lys518Glu) rs879254937
NM_000527.5(LDLR):c.1561G>A (p.Ala521Thr) rs879254940
NM_000527.5(LDLR):c.1567G>T (p.Val523Leu)
NM_000527.5(LDLR):c.1618G>T (p.Ala540Ser) rs769370816
NM_000527.5(LDLR):c.1618_1620del (p.Ala540del) rs879254961
NM_000527.5(LDLR):c.1735_1736insTCG (p.Val578dup) rs879255002
NM_000527.5(LDLR):c.1761C>G (p.Ser587Arg) rs753430282
NM_000527.5(LDLR):c.1776_1778del (p.Gly593del) rs875989931
NM_000527.5(LDLR):c.1793T>A (p.Ile598Asn) rs879255024
NM_000527.5(LDLR):c.1793T>C (p.Ile598Thr) rs879255024
NM_000527.5(LDLR):c.1796T>C (p.Leu599Ser) rs879255025
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1833_1841del (p.Leu611_Val613del) rs879255040
NM_000527.5(LDLR):c.1845+15C>A rs759867686
NM_000527.5(LDLR):c.185C>T (p.Thr62Met)
NM_000527.5(LDLR):c.1885T>G (p.Phe629Val) rs765736500
NM_000527.5(LDLR):c.1907G>A (p.Gly636Asp) rs879255072
NM_000527.5(LDLR):c.1916T>A (p.Val639Asp) rs794728584
NM_000527.5(LDLR):c.1927G>C (p.Ala643Pro) rs879255074
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1948G>A (p.Glu650Lys) rs768724935
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.1958T>G (p.Val653Gly) rs879255086
NM_000527.5(LDLR):c.1997G>T (p.Trp666Leu) rs879255105
NM_000527.5(LDLR):c.2068C>G (p.His690Asp) rs757009067
NM_000527.5(LDLR):c.2094C>G (p.Cys698Trp) rs879255137
NM_000527.5(LDLR):c.2198C>T (p.Ser733Phe) rs879255162
NM_000527.5(LDLR):c.2296A>G (p.Thr766Ala) rs879255171
NM_000527.5(LDLR):c.2297C>T (p.Thr766Ile) rs879255173
NM_000527.5(LDLR):c.2311+1941_*1216dup
NM_000527.5(LDLR):c.2322_2342del (p.Asp774_Asn780del) rs879255179
NM_000527.5(LDLR):c.2356A>T (p.Ser786Cys) rs730882114
NM_000527.5(LDLR):c.2389+3A>C rs879255189
NM_000527.5(LDLR):c.2407_2424dup (p.Cys803_Leu808dup) rs879255201
NM_000527.5(LDLR):c.2458_2466del (p.Ser820_Asn822del) rs879255214
NM_000527.5(LDLR):c.2547+3G>C rs879255225
NM_000527.5(LDLR):c.2549G>A (p.Arg850Lys) rs879255228
NM_000527.5(LDLR):c.255G>T (p.Gln85His) rs879254450
NM_000527.5(LDLR):c.264G>C (p.Arg88Ser) rs879254454
NM_000527.5(LDLR):c.314-3C>T rs879254469
NM_000527.5(LDLR):c.323C>T (p.Thr108Met) rs750126678
NM_000527.5(LDLR):c.445G>T (p.Gly149Cys) rs879254529
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.56C>A (p.Ala19Glu) rs879254392
NM_000527.5(LDLR):c.56C>T (p.Ala19Val) rs879254392
NM_000527.5(LDLR):c.599T>G (p.Phe200Cys) rs879254586
NM_000527.5(LDLR):c.621C>G (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.631C>G (p.His211Asp) rs771917370
NM_000527.5(LDLR):c.694+8_694+18dup rs777512182
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.815A>C (p.Asn272Thr) rs202213054
NM_000527.5(LDLR):c.850T>A (p.Cys284Ser) rs879254693
NM_000527.5(LDLR):c.851G>C (p.Cys284Ser) rs879254694
NM_000527.5(LDLR):c.869_871dup (p.Ile290dup) rs879254698
NM_000527.5(LDLR):c.914G>C (p.Trp305Ser) rs879254717
NM_000527.5(LDLR):c.941-13T>A rs879254733
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)

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.