ClinVar Miner

List of variants reported as likely benign for Hypercholesterolemia, familial, 1 by All of Us Research Program, National Institutes of Health

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Total variants: 199
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_000527.5(LDLR):c.858C>T (p.Ser286=) rs140241383 0.00116
NM_000527.5(LDLR):c.828C>T (p.Cys276=) rs146651743 0.00096
NM_000527.5(LDLR):c.2055G>A (p.Pro685=) rs149126953 0.00040
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866 0.00032
NM_000527.5(LDLR):c.1530G>A (p.Thr510=) rs367655096 0.00019
NM_000527.5(LDLR):c.345C>G (p.Arg115=) rs150144164 0.00018
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
NM_000527.5(LDLR):c.1491T>C (p.Thr497=) rs145252288 0.00015
NM_000527.5(LDLR):c.165C>G (p.Gly55=) rs150644181 0.00015
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000527.5(LDLR):c.2358C>T (p.Ser786=) rs183255090 0.00008
NM_000527.5(LDLR):c.1710C>T (p.Leu570=) rs141095938 0.00007
NM_000527.5(LDLR):c.267C>T (p.Cys89=) rs777640882 0.00007
NM_000527.5(LDLR):c.108C>T (p.Asp36=) rs373144619 0.00006
NM_000527.5(LDLR):c.1428C>T (p.Pro476=) rs543392107 0.00006
NM_000527.5(LDLR):c.147C>T (p.Ser49=) rs138078086 0.00006
NM_000527.5(LDLR):c.1846-10G>T rs368243304 0.00006
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_000527.5(LDLR):c.681C>T (p.Asp227=) rs121908028 0.00006
NM_000527.5(LDLR):c.1671T>C (p.Thr557=) rs750643961 0.00005
NM_000527.5(LDLR):c.2427A>G (p.Leu809=) rs147191787 0.00005
NM_000527.5(LDLR):c.2574C>T (p.Asp858=) rs139757711 0.00005
NM_000527.5(LDLR):c.2577G>A (p.Val859=) rs201685587 0.00005
NM_000527.5(LDLR):c.351C>T (p.His117=) rs200258458 0.00005
NM_000527.5(LDLR):c.660C>T (p.Pro220=) rs143002616 0.00005
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_000527.5(LDLR):c.1279A>C (p.Arg427=) rs371355878 0.00004
NM_000527.5(LDLR):c.1380C>T (p.His460=) rs768883894 0.00004
NM_000527.5(LDLR):c.1713C>T (p.Leu571=) rs1015887338 0.00004
NM_000527.5(LDLR):c.1944C>T (p.Ser648=) rs774330316 0.00004
NM_000527.5(LDLR):c.291C>T (p.Asn97=) rs372845091 0.00004
NM_000527.5(LDLR):c.1002C>T (p.Ile334=) rs762853526 0.00003
NM_000527.5(LDLR):c.1038G>A (p.Leu346=) rs769228441 0.00003
NM_000527.5(LDLR):c.1383C>T (p.Gly461=) rs764929176 0.00003
NM_000527.5(LDLR):c.1692T>C (p.Asn564=) rs528405760 0.00003
NM_000527.5(LDLR):c.186G>A (p.Thr62=) rs55958434 0.00003
NM_000527.5(LDLR):c.2241C>T (p.Pro747=) rs554523758 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.2398G>A (p.Val800Ile) rs200243555 0.00003
NM_000527.5(LDLR):c.285C>T (p.Cys95=) rs139400379 0.00003
NM_000527.5(LDLR):c.300C>T (p.Asp100=) rs766709484 0.00003
NM_000527.5(LDLR):c.417C>T (p.Asp139=) rs537484504 0.00003
NM_000527.5(LDLR):c.501C>T (p.Cys167=) rs752596535 0.00003
NM_000527.5(LDLR):c.717C>T (p.Asp239=) rs1286110371 0.00003
NM_000527.5(LDLR):c.1104C>T (p.Cys368=) rs113669610 0.00002
NM_000527.5(LDLR):c.1209C>T (p.Phe403=) rs777903106 0.00002
NM_000527.5(LDLR):c.1401C>T (p.Thr467=) rs780942671 0.00002
NM_000527.5(LDLR):c.2064C>T (p.Asn688=) rs142279332 0.00002
NM_000527.5(LDLR):c.2100C>T (p.Asp700=) rs759858813 0.00002
NM_000527.5(LDLR):c.210C>T (p.Ser70=) rs1297676592 0.00002
NM_000527.5(LDLR):c.2277C>T (p.Leu759=) rs796145467 0.00002
NM_000527.5(LDLR):c.2355T>C (p.Ser785=) rs756895842 0.00002
NM_000527.5(LDLR):c.2481C>T (p.Val827=) rs767524995 0.00002
NM_000527.5(LDLR):c.324G>C (p.Thr108=) rs146517429 0.00002
NM_000527.5(LDLR):c.408C>T (p.Asp136=) rs759738744 0.00002
NM_000527.5(LDLR):c.651T>C (p.Asp217=) rs201374693 0.00002
NM_000527.5(LDLR):c.720A>G (p.Glu240=) rs776223298 0.00002
NM_000527.5(LDLR):c.72C>T (p.Gly24=) rs774304077 0.00002
NC_000019.10:g.11089452G>C rs944580031 0.00001
NM_000527.5(LDLR):c.1008C>T (p.Tyr336=) rs767024374 0.00001
NM_000527.5(LDLR):c.1023C>T (p.Pro341=) rs376267007 0.00001
NM_000527.5(LDLR):c.1036C>T (p.Leu346=) rs1135402770 0.00001
NM_000527.5(LDLR):c.1164C>T (p.His388=) rs1215990807 0.00001
NM_000527.5(LDLR):c.1187-11C>T rs897774579 0.00001
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.1284C>T (p.Asn428=) rs368708058 0.00001
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075 0.00001
NM_000527.5(LDLR):c.1356C>T (p.Cys452=) rs137853961 0.00001
NM_000527.5(LDLR):c.1359-10C>T rs779530380 0.00001
NM_000527.5(LDLR):c.1515C>T (p.Gly505=) rs780757228 0.00001
NM_000527.5(LDLR):c.1566C>T (p.Ile522=) rs759322565 0.00001
NM_000527.5(LDLR):c.1587-11C>T rs201957233 0.00001
NM_000527.5(LDLR):c.1632A>G (p.Lys544=) rs1291759570 0.00001
NM_000527.5(LDLR):c.1635G>A (p.Gly545=) rs767602284 0.00001
NM_000527.5(LDLR):c.1653C>T (p.Asp551=) rs753878216 0.00001
NM_000527.5(LDLR):c.1662G>A (p.Ser554=) rs151047249 0.00001
NM_000527.5(LDLR):c.1665G>T (p.Leu555=) rs779057688 0.00001
NM_000527.5(LDLR):c.1854A>G (p.Val618=) rs1248760084 0.00001
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349 0.00001
NM_000527.5(LDLR):c.1974C>T (p.Leu658=) rs546153613 0.00001
NM_000527.5(LDLR):c.2025C>T (p.Gly675=) rs778781895 0.00001
NM_000527.5(LDLR):c.2037T>C (p.Tyr679=) rs760436036 0.00001
NM_000527.5(LDLR):c.2088C>T (p.Cys696=) rs112954220 0.00001
NM_000527.5(LDLR):c.2097G>A (p.Pro699=) rs370835628 0.00001
NM_000527.5(LDLR):c.225T>C (p.Cys75=) rs758927662 0.00001
NM_000527.5(LDLR):c.2265C>T (p.Ala755=) rs762453962 0.00001
NM_000527.5(LDLR):c.2319C>T (p.Gly773=) rs377563758 0.00001
NM_000527.5(LDLR):c.2322C>T (p.Asp774=) rs746132154 0.00001
NM_000527.5(LDLR):c.2328T>C (p.Ala776=) rs746838498 0.00001
NM_000527.5(LDLR):c.2382C>G (p.Leu794=) rs1271856256 0.00001
NM_000527.5(LDLR):c.2390-3C>T rs755033580 0.00001
NM_000527.5(LDLR):c.2418C>A (p.Val806=) rs771705902 0.00001
NM_000527.5(LDLR):c.2469T>C (p.Phe823=) rs1026436742 0.00001
NM_000527.5(LDLR):c.2472C>T (p.Asp824=) rs1309851194 0.00001
NM_000527.5(LDLR):c.2478C>T (p.Pro826=) rs774831273 0.00001
NM_000527.5(LDLR):c.432G>A (p.Pro144=) rs769228052 0.00001
NM_000527.5(LDLR):c.438C>A (p.Leu146=) rs762024743 0.00001
NM_000527.5(LDLR):c.48C>A (p.Leu16=) rs565675103 0.00001
NM_000527.5(LDLR):c.531G>A (p.Ser177=) rs555158224 0.00001
NM_000527.5(LDLR):c.585C>T (p.Ser195=) rs756880555 0.00001
NM_000527.5(LDLR):c.588C>A (p.Pro196=) rs574219590 0.00001
NM_000527.5(LDLR):c.60G>A (p.Gly20=) rs1276464477 0.00001
NM_000527.5(LDLR):c.711C>T (p.Arg237=) rs780294768 0.00001
NM_000527.5(LDLR):c.774A>G (p.Glu258=) rs1307291980 0.00001
NM_000527.5(LDLR):c.795C>T (p.Ser265=) rs146181232 0.00001
NM_000527.5(LDLR):c.810C>T (p.Cys270=) rs773328511 0.00001
NM_000527.5(LDLR):c.811G>A (p.Val271Ile) rs749220643 0.00001
NM_000527.5(LDLR):c.941-5C>T rs750183389 0.00001
NM_000527.5(LDLR):c.941-7T>C rs764945757 0.00001
NM_000527.5(LDLR):c.948C>T (p.Asn316=) rs780673258 0.00001
NM_000527.5(LDLR):c.966C>T (p.Asn322=) rs567080879 0.00001
NM_000527.5(LDLR):c.969C>T (p.Gly323=) rs199622547 0.00001
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933 0.00001
NC_000019.10:g.11089352G>A rs2077054310
NC_000019.10:g.11089427C>A rs1568582299
NC_000019.10:g.11089452G>A rs944580031
NM_000527.5(LDLR):c.1023C>G (p.Pro341=)
NM_000527.5(LDLR):c.1026C>T (p.Asp342=) rs780563386
NM_000527.5(LDLR):c.1029C>G (p.Gly343=)
NM_000527.5(LDLR):c.102C>T (p.Cys34=)
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
NM_000527.5(LDLR):c.1122C>G (p.Gly374=)
NM_000527.5(LDLR):c.1131C>T (p.Cys377=) rs1479733657
NM_000527.5(LDLR):c.1146C>T (p.Gly382=) rs1158580981
NM_000527.5(LDLR):c.1155G>C (p.Leu385=) rs1347387935
NM_000527.5(LDLR):c.1186+6C>T
NM_000527.5(LDLR):c.1242G>C (p.Leu414=)
NM_000527.5(LDLR):c.1263C>T (p.Ser421=) rs752942769
NM_000527.5(LDLR):c.1275C>T (p.Asn425=)
NM_000527.5(LDLR):c.1290C>T (p.Val430=) rs1568603661
NM_000527.5(LDLR):c.1326C>T (p.Tyr442=) rs879254865
NM_000527.5(LDLR):c.1336C>T (p.Leu446=) rs375651668
NM_000527.5(LDLR):c.1359-28C>A
NM_000527.5(LDLR):c.1359-29G>C
NM_000527.5(LDLR):c.1359-31G>C
NM_000527.5(LDLR):c.1359-6C>T
NM_000527.5(LDLR):c.1368T>A (p.Leu456=) rs2077414640
NM_000527.5(LDLR):c.1392C>T (p.Ser464=) rs762817882
NM_000527.5(LDLR):c.1473C>G (p.Thr491=) rs558238642
NM_000527.5(LDLR):c.150T>C (p.Ala50=) rs1456739064
NM_000527.5(LDLR):c.1548C>T (p.Gly516=)
NM_000527.5(LDLR):c.1638C>T (p.Gly546=) rs1480572702
NM_000527.5(LDLR):c.1683G>A (p.Gln561=) rs2077460841
NM_000527.5(LDLR):c.1761C>T (p.Ser587=) rs753430282
NM_000527.5(LDLR):c.1831T>C (p.Leu611=)
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.183G>A (p.Glu61=) rs2147210752
NM_000527.5(LDLR):c.1846-10G>A rs368243304
NM_000527.5(LDLR):c.1848C>T (p.Asp616=) rs2077522347
NM_000527.5(LDLR):c.1881C>T (p.Ala627=) rs2147264976
NM_000527.5(LDLR):c.1905A>G (p.Thr635=)
NM_000527.5(LDLR):c.191-15C>A
NM_000527.5(LDLR):c.1936C>T (p.Leu646=)
NM_000527.5(LDLR):c.1939C>T (p.Leu647=) rs1600742572
NM_000527.5(LDLR):c.1980G>A (p.Gln660=)
NM_000527.5(LDLR):c.2052C>G (p.Ala684=) rs760034984
NM_000527.5(LDLR):c.2073G>A (p.Ser691=) rs146869252
NM_000527.5(LDLR):c.2178C>A (p.Thr726=) rs1027266368
NM_000527.5(LDLR):c.2178C>T (p.Thr726=) rs1027266368
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
NM_000527.5(LDLR):c.2241C>A (p.Pro747=) rs554523758
NM_000527.5(LDLR):c.226G>T (p.Gly76Trp) rs574337291
NM_000527.5(LDLR):c.2283G>A (p.Thr761=) rs771325747
NM_000527.5(LDLR):c.231C>T (p.Gly77=) rs1425452256
NM_000527.5(LDLR):c.2390-9T>C
NM_000527.5(LDLR):c.2406T>A (p.Leu802=)
NM_000527.5(LDLR):c.2442G>A (p.Arg814=)
NM_000527.5(LDLR):c.2511C>T (p.His837=)
NM_000527.5(LDLR):c.2548-12A>C
NM_000527.5(LDLR):c.2548-8G>C rs1249096480
NM_000527.5(LDLR):c.2580G>A (p.Ala860=) rs1285017808
NM_000527.5(LDLR):c.264G>A (p.Arg88=)
NM_000527.5(LDLR):c.270T>C (p.Asp90=) rs372828849
NM_000527.5(LDLR):c.303G>A (p.Glu101=) rs1600705245
NM_000527.5(LDLR):c.324G>A (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.324G>T (p.Thr108=) rs146517429
NM_000527.5(LDLR):c.336C>T (p.Asp112=) rs747806084
NM_000527.5(LDLR):c.354T>C (p.Asp118=) rs2077267881
NM_000527.5(LDLR):c.375G>A (p.Gln125=) rs2147223505
NM_000527.5(LDLR):c.381C>T (p.Val127=)
NM_000527.5(LDLR):c.399C>T (p.Asp133=) rs2077269856
NM_000527.5(LDLR):c.432G>C (p.Pro144=) rs769228052
NM_000527.5(LDLR):c.432G>T (p.Pro144=)
NM_000527.5(LDLR):c.441C>T (p.Thr147=) rs2147223916
NM_000527.5(LDLR):c.543G>T (p.Pro181=) rs766577671
NM_000527.5(LDLR):c.600C>T (p.Phe200=)
NM_000527.5(LDLR):c.621C>A (p.Gly207=) rs121908044
NM_000527.5(LDLR):c.693C>T (p.Cys231=)
NM_000527.5(LDLR):c.694+8_694+18del rs777512182
NM_000527.5(LDLR):c.695-10T>C rs778975482
NM_000527.5(LDLR):c.695-3C>T rs745897889
NM_000527.5(LDLR):c.762G>A (p.Gln254=)
NM_000527.5(LDLR):c.818-3C>T
NM_000527.5(LDLR):c.912C>T (p.Asp304=)
NM_000527.5(LDLR):c.939C>T (p.Cys313=)
NM_000527.5(LDLR):c.941-10C>T rs2147238414
NM_000527.5(LDLR):c.941-14C>T
NM_000527.5(LDLR):c.978C>T (p.Ser326=)

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