ClinVar Miner

List of variants reported as likely pathogenic for Familial hypercholesterolemia by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 167
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.760C>G (p.Gln254Glu) rs759109699 0.00007
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1774G>A (p.Gly592Arg) rs763147599 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.1004G>A (p.Gly335Asp) rs869320650 0.00001
NM_000527.5(LDLR):c.1019G>T (p.Cys340Phe) rs755757866 0.00001
NM_000527.5(LDLR):c.1367T>C (p.Leu456Pro) rs200143634 0.00001
NM_000527.5(LDLR):c.1381G>T (p.Gly461Cys) rs193922568 0.00001
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102 0.00001
NM_000527.5(LDLR):c.1586G>A (p.Gly529Asp) rs878854025 0.00001
NM_000527.5(LDLR):c.1592T>A (p.Met531Lys) rs779913921 0.00001
NM_000527.5(LDLR):c.1730G>C (p.Trp577Ser) rs138947766 0.00001
NM_000527.5(LDLR):c.1886T>G (p.Phe629Cys) rs879255069 0.00001
NM_000527.5(LDLR):c.1906G>A (p.Gly636Ser) rs764550980 0.00001
NM_000527.5(LDLR):c.504C>A (p.Asp168Glu) rs777321035 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000527.5(LDLR):c.859G>A (p.Gly287Ser) rs375495026 0.00001
NC_000019.10:g.11089400C>A rs879254368
NC_000019.10:g.11089413C>G rs879254374
NC_000019.9:g.(?_11210879)_(11227694_?)dup
NC_000019.9:g.(?_11213330)_(11227689_?)dup
NC_000019.9:g.(?_11215876)_(11224458_?)dup
NC_000019.9:g.(?_11223934)_(11231218_?)dup
NC_000019.9:g.(?_11234271)_(11242805_?)dup
NC_000019.9:g.(?_11238664)_(11242870_?)dup
NC_000019.9:g.(?_11238684)_(11248011_?)dup
NM_000527.5(LDLR):c.1003G>C (p.Gly335Arg) rs544453230
NM_000527.5(LDLR):c.1004G>T (p.Gly335Val) rs869320650
NM_000527.5(LDLR):c.1011G>C (p.Glu337Asp)
NM_000527.5(LDLR):c.1048C>G (p.Arg350Gly)
NM_000527.5(LDLR):c.1060G>A (p.Asp354Asn)
NM_000527.5(LDLR):c.1067A>T (p.Asp356Val) rs879254777
NM_000527.5(LDLR):c.1072T>C (p.Cys358Arg) rs879254783
NM_000527.5(LDLR):c.1109A>T (p.Asn370Ile)
NM_000527.5(LDLR):c.1118G>C (p.Gly373Ala) rs879254797
NM_000527.5(LDLR):c.1123T>G (p.Tyr375Asp)
NM_000527.5(LDLR):c.1165A>G (p.Thr389Ala)
NM_000527.5(LDLR):c.1166C>A (p.Thr389Lys)
NM_000527.5(LDLR):c.1177A>G (p.Lys393Glu)
NM_000527.5(LDLR):c.1186+5G>A rs879254821
NM_000527.5(LDLR):c.1214A>G (p.Asn405Ser)
NM_000527.5(LDLR):c.1215C>G (p.Asn405Lys) rs879254837
NM_000527.5(LDLR):c.1222G>C (p.Glu408Gln) rs137943601
NM_000527.5(LDLR):c.1228A>G (p.Arg410Gly) rs2077408020
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.5(LDLR):c.1238C>G (p.Thr413Arg)
NM_000527.5(LDLR):c.1247G>T (p.Arg416Leu) rs773658037
NM_000527.5(LDLR):c.1274A>T (p.Asn425Ile) rs879254850
NM_000527.5(LDLR):c.1277T>C (p.Leu426Pro) rs879254851
NM_000527.5(LDLR):c.1285G>T (p.Val429Leu) rs28942078
NM_000527.5(LDLR):c.1292C>G (p.Ala431Gly)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1298A>C (p.Asp433Ala)
NM_000527.5(LDLR):c.1307T>A (p.Val436Glu) rs779732323
NM_000527.5(LDLR):c.1307T>G (p.Val436Gly)
NM_000527.5(LDLR):c.1318A>G (p.Arg440Gly) rs879254861
NM_000527.5(LDLR):c.1319G>T (p.Arg440Ile)
NM_000527.5(LDLR):c.1331C>T (p.Ser444Phe) rs2147247764
NM_000527.5(LDLR):c.1351A>T (p.Ile451Phe) rs879254873
NM_000527.5(LDLR):c.1357_1359-37del rs1600726930
NM_000527.5(LDLR):c.1366C>T (p.Leu456Phe) rs761004553
NM_000527.5(LDLR):c.1403T>A (p.Val468Asp) rs879254890
NM_000527.5(LDLR):c.1408A>T (p.Ser470Cys) rs1057516128
NM_000527.5(LDLR):c.1424C>T (p.Ala475Val) rs879254897
NM_000527.5(LDLR):c.1433G>T (p.Gly478Val)
NM_000527.5(LDLR):c.1438G>A (p.Ala480Thr) rs879254901
NM_000527.5(LDLR):c.1438G>T (p.Ala480Ser)
NM_000527.5(LDLR):c.1445A>G (p.Asp482Gly) rs879254904
NM_000527.5(LDLR):c.1463T>C (p.Ile488Thr)
NM_000527.5(LDLR):c.1470G>T (p.Trp490Cys)
NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) rs879254918
NM_000527.5(LDLR):c.1495T>C (p.Ser499Pro) rs879254921
NM_000527.5(LDLR):c.1555C>T (p.Pro519Ser) rs875989923
NM_000527.5(LDLR):c.1561G>T (p.Ala521Ser)
NM_000527.5(LDLR):c.1562C>T (p.Ala521Val) rs770696696
NM_000527.5(LDLR):c.1567G>C (p.Val523Leu) rs28942080
NM_000527.5(LDLR):c.1574A>T (p.Asp525Val) rs879254943
NM_000527.5(LDLR):c.1577C>A (p.Pro526His) rs879254944
NM_000527.5(LDLR):c.1577C>T (p.Pro526Leu)
NM_000527.5(LDLR):c.1592T>C (p.Met531Thr)
NM_000527.5(LDLR):c.1633G>C (p.Gly545Arg) rs879254965
NM_000527.5(LDLR):c.1643A>G (p.Asn548Ser)
NM_000527.5(LDLR):c.1645G>C (p.Gly549Arg)
NM_000527.5(LDLR):c.1646G>C (p.Gly549Ala) rs28941776
NM_000527.5(LDLR):c.1664T>G (p.Leu555Arg)
NM_000527.5(LDLR):c.1692T>G (p.Asn564Lys)
NM_000527.5(LDLR):c.1693G>A (p.Gly565Ser)
NM_000527.5(LDLR):c.1693G>C (p.Gly565Arg)
NM_000527.5(LDLR):c.1693G>T (p.Gly565Cys)
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1738T>A (p.Ser580Thr)
NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) rs879255027
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro) rs2077475503
NM_000527.5(LDLR):c.1829C>T (p.Ser610Phe) rs879255038
NM_000527.5(LDLR):c.1829_1831del (p.Ser610del) rs879255037
NM_000527.5(LDLR):c.1862C>G (p.Thr621Arg) rs879255058
NM_000527.5(LDLR):c.1864G>C (p.Asp622His)
NM_000527.5(LDLR):c.1880C>T (p.Ala627Val) rs875989934
NM_000527.5(LDLR):c.190+2_190+3del
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu) rs879255081
NM_000527.5(LDLR):c.1957G>T (p.Val653Phe) rs879255085
NM_000527.5(LDLR):c.1961T>C (p.Leu654Pro) rs2077526349
NM_000527.5(LDLR):c.1963T>C (p.Phe655Leu)
NM_000527.5(LDLR):c.1999T>G (p.Cys667Gly)
NM_000527.5(LDLR):c.2026G>C (p.Gly676Arg) rs745753810
NM_000527.5(LDLR):c.202T>C (p.Cys68Arg) rs1057519652
NM_000527.5(LDLR):c.2030G>T (p.Cys677Phe) rs875989938
NM_000527.5(LDLR):c.2042G>A (p.Cys681Tyr) rs201637900
NM_000527.5(LDLR):c.2045T>C (p.Leu682Pro) rs879255119
NM_000527.5(LDLR):c.2054C>G (p.Pro685Arg)
NM_000527.5(LDLR):c.2087G>T (p.Cys696Phe) rs879255134
NM_000527.5(LDLR):c.2095C>T (p.Pro699Ser)
NM_000527.5(LDLR):c.2113G>T (p.Ala705Ser) rs193922570
NM_000527.5(LDLR):c.2114C>T (p.Ala705Val)
NM_000527.5(LDLR):c.2141-1G>C
NM_000527.5(LDLR):c.2312-1G>A rs753047625
NM_000527.5(LDLR):c.2370_2389+20del rs1600762098
NM_000527.5(LDLR):c.2384_2389+2del
NM_000527.5(LDLR):c.2414G>A (p.Gly805Glu) rs2147286859
NM_000527.5(LDLR):c.2479G>T (p.Val827Phe) rs137853964
NM_000527.5(LDLR):c.268G>T (p.Asp90Tyr) rs749038326
NM_000527.5(LDLR):c.270T>A (p.Asp90Glu) rs372828849
NM_000527.5(LDLR):c.280G>T (p.Asp94Tyr) rs745776977
NM_000527.5(LDLR):c.310T>G (p.Cys104Gly) rs879254464
NM_000527.5(LDLR):c.311_313+18del rs2147217467
NM_000527.5(LDLR):c.427T>G (p.Cys143Gly) rs875989901
NM_000527.5(LDLR):c.442T>C (p.Cys148Arg) rs879254525
NM_000527.5(LDLR):c.44T>C (p.Leu15Pro) rs879254390
NM_000527.5(LDLR):c.44T>G (p.Leu15Arg) rs879254390
NM_000527.5(LDLR):c.485C>T (p.Pro162Leu) rs879254543
NM_000527.5(LDLR):c.500G>A (p.Cys167Tyr) rs879254548
NM_000527.5(LDLR):c.514G>T (p.Asp172Tyr) rs879254554
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp) rs879254584
NM_000527.5(LDLR):c.601G>C (p.Glu201Gln)
NM_000527.5(LDLR):c.602A>C (p.Glu201Ala)
NM_000527.5(LDLR):c.610T>C (p.Cys204Arg) rs1057519655
NM_000527.5(LDLR):c.611G>T (p.Cys204Phe) rs879254592
NM_000527.5(LDLR):c.665G>T (p.Cys222Phe) rs730882086
NM_000527.5(LDLR):c.669G>C (p.Lys223Asn) rs879254627
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer) rs879254626
NM_000527.5(LDLR):c.67+1G>A
NM_000527.5(LDLR):c.67+1dup rs2147186763
NM_000527.5(LDLR):c.672C>G (p.Asp224Glu) rs1057519658
NM_000527.5(LDLR):c.679G>A (p.Asp227Asn) rs2077282480
NM_000527.5(LDLR):c.679G>C (p.Asp227His) rs2077282480
NM_000527.5(LDLR):c.781T>A (p.Cys261Ser) rs1372739823
NM_000527.5(LDLR):c.781T>C (p.Cys261Arg) rs1372739823
NM_000527.5(LDLR):c.787G>T (p.Asp263Tyr)
NM_000527.5(LDLR):c.796G>C (p.Asp266His)
NM_000527.5(LDLR):c.796G>T (p.Asp266Tyr) rs875989907
NM_000527.5(LDLR):c.797A>G (p.Asp266Gly) rs879254678
NM_000527.5(LDLR):c.79T>C (p.Cys27Arg) rs1555802245
NM_000527.5(LDLR):c.801A>T (p.Glu267Asp) rs879254681
NM_000527.5(LDLR):c.809G>A (p.Cys270Tyr) rs879254683
NM_000527.5(LDLR):c.810C>G (p.Cys270Trp) rs773328511
NM_000527.5(LDLR):c.851G>T (p.Cys284Phe) rs879254694
NM_000527.5(LDLR):c.856A>G (p.Ser286Gly)
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.887G>T (p.Cys296Phe) rs879254707
NM_000527.5(LDLR):c.888C>G (p.Cys296Trp)
NM_000527.5(LDLR):c.895G>T (p.Ala299Ser) rs879254711
NM_000527.5(LDLR):c.919G>C (p.Asp307His) rs879254719
NM_000527.5(LDLR):c.920A>C (p.Asp307Ala)
NM_000527.5(LDLR):c.920A>G (p.Asp307Gly) rs1555803908
NM_000527.5(LDLR):c.937T>G (p.Cys313Gly) rs879254728
NM_000527.5(LDLR):c.974G>T (p.Cys325Phe) rs879254746

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