ClinVar Miner

List of variants reported as likely benign for familial hyperlipidemia by LDLR-LOVD, British Heart Foundation

Included ClinVar conditions (29):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2312-136A>G rs2569538 0.86836
NM_000527.5(LDLR):c.1705+56C>T rs4508523 0.21747
NM_000527.5(LDLR):c.190+56G>A rs3745677 0.09858
NC_000019.10:g.11089281G>T rs17249134 0.00679
NM_000527.5(LDLR):c.2389+57C>T rs145293532 0.00605
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1060+59A>C rs55642005 0.00338
NM_000527.5(LDLR):c.1060+40G>A rs192390193 0.00260
NM_000527.5(LDLR):c.313+69C>T rs56084625 0.00227
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_000527.5(LDLR):c.1186+29C>A rs201971341 0.00061
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.940+16G>A rs72658859 0.00028
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896 0.00013
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866 0.00012
NM_000527.5(LDLR):c.1538G>A (p.Arg513Lys) rs879254934 0.00009
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.2252G>A (p.Arg751Gln) rs200142970 0.00007
NM_000527.5(LDLR):c.1026C>G (p.Asp342Glu) rs780563386 0.00006
NM_000527.5(LDLR):c.1359-3C>T rs775657243 0.00006
NM_000527.5(LDLR):c.1516G>A (p.Val506Met) rs373848925 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.2389+23G>A rs770347398 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.190+34T>C rs758901876 0.00004
NM_000527.5(LDLR):c.1987+10G>T rs375846192 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.434T>C (p.Val145Ala) rs776872913 0.00004
NM_000527.5(LDLR):c.1060+24C>A rs370478935 0.00003
NM_000527.5(LDLR):c.1383C>T (p.Gly461=) rs764929176 0.00003
NM_000527.5(LDLR):c.1954A>G (p.Met652Val) rs730882111 0.00003
NM_000527.5(LDLR):c.300C>T (p.Asp100=) rs766709484 0.00003
NM_000527.5(LDLR):c.-13A>G rs376011618 0.00002
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1510A>G (p.Lys504Glu) rs730882103 0.00002
NM_000527.5(LDLR):c.2294T>G (p.Val765Gly) rs879255170 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000527.5(LDLR):c.695-105G>C rs879254649 0.00002
NM_000527.5(LDLR):c.1063A>G (p.Ile355Val) rs879254776 0.00001
NM_000527.5(LDLR):c.1153C>G (p.Leu385Val) rs879254808 0.00001
NM_000527.5(LDLR):c.1186+10G>C rs781336025 0.00001
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524 0.00001
NM_000527.5(LDLR):c.1359-29G>A rs879254877 0.00001
NM_000527.5(LDLR):c.1384G>A (p.Val462Ile) rs750363970 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1661C>T (p.Ser554Leu) rs879254976 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.1976C>A (p.Thr659Asn) rs879255094 0.00001
NM_000527.5(LDLR):c.2025C>T (p.Gly675=) rs778781895 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2291T>C (p.Ile764Thr) rs759440817 0.00001
NM_000527.5(LDLR):c.2343G>T (p.Glu781Asp) rs761683856 0.00001
NM_000527.5(LDLR):c.2548-12A>G rs771336748 0.00001
NM_000527.5(LDLR):c.584G>A (p.Ser195Asn) rs879254583 0.00001
NM_000527.5(LDLR):c.810C>T (p.Cys270=) rs773328511 0.00001
NM_000527.5(LDLR):c.969C>T (p.Gly323=) rs199622547 0.00001
NC_000019.10:g.11089334A>G rs879254360
NC_000019.10:g.11089341A>T rs879254361
NC_000019.10:g.11089461G>A
NM_000527.5(LDLR):c.*43G>A rs879254527
NM_000527.5(LDLR):c.-36T>G rs879254378
NM_000527.5(LDLR):c.1022C>G (p.Pro341Arg) rs879254759
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1060+16dup rs879254772
NM_000527.5(LDLR):c.1060+26T>G rs375850141
NM_000527.5(LDLR):c.1060+39C>G rs777644641
NM_000527.5(LDLR):c.1120_1121delinsTC (p.Gly374Ser) rs879254798
NM_000527.5(LDLR):c.1158C>G (p.Asp386Glu) rs879254810
NM_000527.5(LDLR):c.1185G>C (p.Val395=) rs879254818
NM_000527.5(LDLR):c.1186+11G>A rs879254822
NM_000527.5(LDLR):c.1186+41T>A rs536387604
NM_000527.5(LDLR):c.1189T>A (p.Ser397Thr) rs879254825
NM_000527.5(LDLR):c.1236G>A (p.Met412Ile) rs879254843
NM_000527.5(LDLR):c.1244A>G (p.Asp415Gly) rs879254845
NM_000527.5(LDLR):c.1288G>C (p.Val430Leu) rs879254853
NM_000527.5(LDLR):c.1301C>A (p.Thr434Lys) rs745343524
NM_000527.5(LDLR):c.1359-4T>C rs879254878
NM_000527.5(LDLR):c.1376C>G (p.Ala459Gly) rs377388822
NM_000527.5(LDLR):c.1400C>T (p.Thr467Ile) rs754411636
NM_000527.5(LDLR):c.1411A>G (p.Arg471Gly) rs879254891
NM_000527.5(LDLR):c.1417A>G (p.Ile473Val) rs879254894
NM_000527.5(LDLR):c.1456A>G (p.Ser486Gly) rs879254909
NM_000527.5(LDLR):c.1457G>A (p.Ser486Asn) rs879254910
NM_000527.5(LDLR):c.147C>A (p.Ser49Arg) rs138078086
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1492G>T (p.Val498Phe) rs759139712
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1546G>A (p.Gly516Ser)
NM_000527.5(LDLR):c.1553A>G (p.Lys518Arg) rs879254938
NM_000527.5(LDLR):c.1587-51G>T rs879254946
NM_000527.5(LDLR):c.1612A>T (p.Thr538Ser) rs879254960
NM_000527.5(LDLR):c.1705+112C>G rs879254995
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1706-23T>C rs748089731
NM_000527.5(LDLR):c.1715G>A (p.Ser572Asn) rs879254997
NM_000527.5(LDLR):c.1792A>C (p.Ile598Leu) rs879255023
NM_000527.5(LDLR):c.1809G>C (p.Lys603Asn) rs879255030
NM_000527.5(LDLR):c.1825T>C (p.Phe609Leu) rs879255036
NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser) rs879255042
NM_000527.5(LDLR):c.1836C>T (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1874A>C (p.Asn625Thr) rs879255064
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.191-252_191-247del rs879254431
NM_000527.5(LDLR):c.1928C>T (p.Ala643Val) rs879255075
NM_000527.5(LDLR):c.1965C>G (p.Phe655Leu) rs879255090
NM_000527.5(LDLR):c.1975A>C (p.Thr659Pro) rs773693079
NM_000527.5(LDLR):c.1987+8dup rs879255099
NM_000527.5(LDLR):c.1988-42G>A rs879255100
NM_000527.5(LDLR):c.1990G>A (p.Val664Met) rs879255103
NM_000527.5(LDLR):c.2017A>C (p.Ser673Arg)
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2140+9C>T rs879255148
NM_000527.5(LDLR):c.2146G>A (p.Glu716Lys) rs879255149
NM_000527.5(LDLR):c.2150C>G (p.Ala717Gly) rs879255150
NM_000527.5(LDLR):c.2155G>C (p.Val719Leu) rs879255151
NM_000527.5(LDLR):c.2171C>T (p.Thr724Ile) rs879255154
NM_000527.5(LDLR):c.2209A>G (p.Arg737Gly) rs879255165
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2360T>A (p.Val787Glu) rs879255182
NM_000527.5(LDLR):c.2364G>T (p.Arg788Ser) rs879255183
NM_000527.5(LDLR):c.2374A>T (p.Ile792Phe) rs761123215
NM_000527.5(LDLR):c.2384C>A (p.Pro795His) rs879255184
NM_000527.5(LDLR):c.2389+14G>A
NM_000527.5(LDLR):c.2389+41C>A
NM_000527.5(LDLR):c.2389+4A>G rs758493597
NM_000527.5(LDLR):c.2389+4dup rs879255190
NM_000527.5(LDLR):c.2389+5G>A rs879255191
NM_000527.5(LDLR):c.2389+5G>T rs879255191
NM_000527.5(LDLR):c.2399T>A (p.Val800Asp) rs879255199
NM_000527.5(LDLR):c.2417T>A (p.Val806Asp) rs879255208
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2506G>A (p.Val836Ile) rs879255220
NM_000527.5(LDLR):c.250C>T (p.Pro84Ser) rs879254449
NM_000527.5(LDLR):c.2547+5G>C rs879255226
NM_000527.5(LDLR):c.274C>G (p.Gln92Glu) rs774467219
NM_000527.5(LDLR):c.305A>C (p.Gln102Pro) rs879254462
NM_000527.5(LDLR):c.349C>T (p.His117Tyr) rs879254486
NM_000527.5(LDLR):c.367T>A (p.Ser123Thr) rs879254495
NM_000527.5(LDLR):c.370C>G (p.Arg124Gly) rs879254498
NM_000527.5(LDLR):c.373C>A (p.Gln125Lys) rs875989899
NM_000527.5(LDLR):c.388T>A (p.Ser130Thr) rs879254508
NM_000527.5(LDLR):c.388T>C (p.Ser130Pro) rs879254508
NM_000527.5(LDLR):c.451G>A (p.Ala151Thr) rs763233960
NM_000527.5(LDLR):c.476C>T (p.Thr159Ile) rs879254539
NM_000527.5(LDLR):c.4G>A (p.Gly2Arg) rs5931
NM_000527.5(LDLR):c.4G>C (p.Gly2Arg)
NM_000527.5(LDLR):c.565G>A (p.Val189Met) rs370820135
NM_000527.5(LDLR):c.598T>A (p.Phe200Ile) rs879254585
NM_000527.5(LDLR):c.600C>A (p.Phe200Leu) rs879254587
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.695-13T>C rs879254650
NM_000527.5(LDLR):c.750T>C (p.His250=) rs141929940
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.770G>T (p.Arg257Leu) rs757808215
NM_000527.5(LDLR):c.772G>A (p.Glu258Lys) rs879254672
NM_000527.5(LDLR):c.790A>G (p.Met264Val) rs730882088
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.820A>T (p.Thr274Ser) rs879254690
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.855C>A (p.His285Gln) rs879254695
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.929T>C (p.Ile310Thr) rs879254722
NM_000527.5(LDLR):c.932A>G (p.Lys311Arg) rs761765254
NM_000527.5(LDLR):c.940+14del rs879254730
NM_000527.5(LDLR):c.941-14dup rs879254732
NM_000527.5(LDLR):c.941-38C>T rs879254731
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A

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