ClinVar Miner

List of variants studied for Familial hypercholesterolemia by Natera, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 242
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HGVS dbSNP gnomAD frequency
NM_000527.5(LDLR):c.2232A>G (p.Arg744=) rs5927 0.74675
NM_000527.5(LDLR):c.1413A>G (p.Arg471=) rs5930 0.65878
NM_015627.3(LDLRAP1):c.654A>G (p.Thr218=) rs28969504 0.62316
NM_015627.3(LDLRAP1):c.604T>C (p.Ser202Pro) rs6687605 0.47789
NM_000527.5(LDLR):c.1959T>C (p.Val653=) rs5925 0.37370
NM_000527.5(LDLR):c.1773C>T (p.Asn591=) rs688 0.33392
NM_000527.5(LDLR):c.1725C>T (p.Leu575=) rs1799898 0.11001
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_000527.5(LDLR):c.90C>T (p.Asn30=) rs72658855 0.00965
NM_015627.3(LDLRAP1):c.653C>T (p.Thr218Ile) rs114583297 0.00817
NM_000527.5(LDLR):c.1187-25C>T rs72658862 0.00812
NC_000019.10:g.11089332C>T rs17249141 0.00338
NM_000527.5(LDLR):c.1920C>T (p.Asn640=) rs5926 0.00319
NM_000527.5(LDLR):c.67+18C>A rs17242759 0.00319
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_000527.5(LDLR):c.498C>T (p.Ala166=) rs10417394 0.00153
NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr) rs121908326 0.00147
NM_015627.3(LDLRAP1):c.396C>T (p.Ile132=) rs369497122 0.00054
NM_000527.5(LDLR):c.58G>A (p.Gly20Arg) rs147509697 0.00053
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_015627.3(LDLRAP1):c.626C>T (p.Thr209Ile) rs141522360 0.00038
NM_015627.3(LDLRAP1):c.451C>T (p.Arg151Trp) rs148916767 0.00032
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103 0.00029
NM_000527.5(LDLR):c.1875C>T (p.Asn625=) rs137853962 0.00026
NM_015627.3(LDLRAP1):c.907G>A (p.Asp303Asn) rs199605881 0.00024
NM_015627.3(LDLRAP1):c.344+4C>T rs371561646 0.00023
NM_015627.3(LDLRAP1):c.78C>T (p.Gly26=) rs928922661 0.00021
NM_000527.5(LDLR):c.1009G>A (p.Glu337Lys) rs539080792 0.00016
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser) rs72658865 0.00016
NM_000527.5(LDLR):c.564C>T (p.Tyr188=) rs121908034 0.00016
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_015627.3(LDLRAP1):c.622G>A (p.Ala208Thr) rs146122441 0.00012
NM_000527.5(LDLR):c.643C>T (p.Arg215Cys) rs764042910 0.00011
NM_000527.5(LDLR):c.907C>T (p.Arg303Trp) rs151207122 0.00009
NM_015627.3(LDLRAP1):c.141G>A (p.Leu47=) rs543454612 0.00009
NM_015627.3(LDLRAP1):c.397G>A (p.Ala133Thr) rs529005321 0.00009
NM_000527.5(LDLR):c.1503G>A (p.Ala501=) rs368889457 0.00008
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540 0.00008
NM_000527.5(LDLR):c.2179G>A (p.Val727Ile) rs769247787 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.1080T>G (p.Asp360Glu) rs749322464 0.00006
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 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.2320G>A (p.Asp774Asn) rs138190838 0.00006
NM_000527.5(LDLR):c.2397C>T (p.Leu799=) rs367882846 0.00006
NM_000527.5(LDLR):c.313C>T (p.Pro105Ser) rs13306510 0.00006
NM_000527.5(LDLR):c.344G>A (p.Arg115His) rs201102461 0.00006
NM_000527.5(LDLR):c.910G>A (p.Asp304Asn) rs121908030 0.00006
NM_000527.5(LDLR):c.979C>T (p.His327Tyr) rs747507019 0.00006
NM_015627.3(LDLRAP1):c.114G>C (p.Thr38=) rs138908999 0.00006
NM_015627.3(LDLRAP1):c.122C>T (p.Thr41Met) rs142920998 0.00006
NM_015627.3(LDLRAP1):c.573C>T (p.Asp191=) rs375358854 0.00006
NM_015627.3(LDLRAP1):c.861C>T (p.Leu287=) rs767867837 0.00006
NM_000527.5(LDLR):c.861C>T (p.Gly287=) rs770191650 0.00005
NM_015627.3(LDLRAP1):c.75T>A (p.Gly25=) rs1057515462 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.1402G>A (p.Val468Ile) rs5932 0.00004
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145 0.00004
NM_000527.5(LDLR):c.1868T>C (p.Ile623Thr) rs141155833 0.00004
NM_000527.5(LDLR):c.232C>T (p.Arg78Cys) rs370860696 0.00004
NM_000527.5(LDLR):c.2575G>A (p.Val859Met) rs202049029 0.00004
NM_000527.5(LDLR):c.798T>A (p.Asp266Glu) rs139043155 0.00004
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg) rs72658858 0.00004
NM_015627.3(LDLRAP1):c.113C>T (p.Thr38Met) rs142139501 0.00004
NM_015627.3(LDLRAP1):c.452G>A (p.Arg151Gln) rs764804901 0.00004
NM_000527.5(LDLR):c.-121T>C rs777716188 0.00003
NM_000527.5(LDLR):c.1060+9C>T rs540073140 0.00003
NM_000527.5(LDLR):c.1335C>G (p.Asp445Glu) rs749780672 0.00003
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109 0.00003
NM_000527.5(LDLR):c.2241C>T (p.Pro747=) rs554523758 0.00003
NM_000527.5(LDLR):c.2359G>A (p.Val787Met) rs143771219 0.00003
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr) rs764493597 0.00003
NM_000527.5(LDLR):c.2388C>T (p.Ile796=) rs543852919 0.00003
NM_000527.5(LDLR):c.2510A>G (p.His837Arg) rs150631538 0.00003
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser) rs750474121 0.00003
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter) rs121908029 0.00003
NM_000527.5(LDLR):c.82G>A (p.Glu28Lys) rs551747280 0.00003
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165 0.00003
NM_015627.3(LDLRAP1):c.621C>T (p.Val207=) rs554028072 0.00003
NM_015627.3(LDLRAP1):c.811G>A (p.Val271Ile) rs367832795 0.00003
NM_000527.5(LDLR):c.1066G>A (p.Asp356Asn) rs767767730 0.00002
NM_000527.5(LDLR):c.1166C>T (p.Thr389Met) rs149227308 0.00002
NM_000527.5(LDLR):c.1529C>T (p.Thr510Met) rs755154048 0.00002
NM_000527.5(LDLR):c.1706-21_1706-19del rs386134242 0.00002
NM_000527.5(LDLR):c.1765G>A (p.Asp589Asn) rs201971888 0.00002
NM_000527.5(LDLR):c.1900C>T (p.Leu634Phe) rs1279368649 0.00002
NM_000527.5(LDLR):c.2050G>A (p.Ala684Thr) rs774730452 0.00002
NM_000527.5(LDLR):c.2411T>C (p.Leu804Pro) rs879255203 0.00002
NM_000527.5(LDLR):c.2552A>G (p.Gln851Arg) rs372328061 0.00002
NM_000527.5(LDLR):c.651T>C (p.Asp217=) rs201374693 0.00002
NM_000527.5(LDLR):c.656G>A (p.Gly219Asp) rs201384282 0.00002
NM_000527.5(LDLR):c.72C>T (p.Gly24=) rs774304077 0.00002
NM_000527.5(LDLR):c.993C>T (p.Asp331=) rs147905921 0.00002
NM_015627.3(LDLRAP1):c.116G>A (p.Arg39Gln) rs761580368 0.00002
NM_015627.3(LDLRAP1):c.167C>T (p.Thr56Met) rs752849346 0.00002
NM_015627.3(LDLRAP1):c.645A>G (p.Leu215=) rs776681796 0.00002
NM_015627.3(LDLRAP1):c.710C>T (p.Pro237Leu) rs746229586 0.00002
NM_000527.5(LDLR):c.1061-1G>C rs879254774 0.00001
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098 0.00001
NM_000527.5(LDLR):c.1195G>A (p.Ala399Thr) rs730882099 0.00001
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met) rs368562025 0.00001
NM_000527.5(LDLR):c.1239G>A (p.Thr413=) rs777011006 0.00001
NM_000527.5(LDLR):c.1336C>A (p.Leu446Met) rs375651668 0.00001
NM_000527.5(LDLR):c.1393T>A (p.Tyr465Asn) rs730882101 0.00001
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val) rs755667663 0.00001
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser) rs758194385 0.00001
NM_000527.5(LDLR):c.1771A>G (p.Asn591Asp) rs140644832 0.00001
NM_000527.5(LDLR):c.1846-1G>A rs879255051 0.00001
NM_000527.5(LDLR):c.1898G>A (p.Arg633His) rs754536745 0.00001
NM_000527.5(LDLR):c.2097G>A (p.Pro699=) rs370835628 0.00001
NM_000527.5(LDLR):c.2206G>A (p.Val736Ile) rs547268730 0.00001
NM_000527.5(LDLR):c.2225C>T (p.Thr742Ile) rs767546791 0.00001
NM_000527.5(LDLR):c.2230C>T (p.Arg744Ter) rs200793488 0.00001
NM_000527.5(LDLR):c.2389+10G>A rs780920371 0.00001
NM_000527.5(LDLR):c.2418C>A (p.Val806=) rs771705902 0.00001
NM_000527.5(LDLR):c.2529C>T (p.Asp843=) rs374635484 0.00001
NM_000527.5(LDLR):c.337G>A (p.Glu113Lys) rs769383881 0.00001
NM_000527.5(LDLR):c.398A>C (p.Asp133Ala) rs1317204420 0.00001
NM_000527.5(LDLR):c.502G>A (p.Asp168Asn) rs200727689 0.00001
NM_000527.5(LDLR):c.543G>A (p.Pro181=) rs766577671 0.00001
NM_000527.5(LDLR):c.565G>C (p.Val189Leu) rs370820135 0.00001
NM_000527.5(LDLR):c.585C>T (p.Ser195=) rs756880555 0.00001
NM_000527.5(LDLR):c.632A>T (p.His211Leu) rs879254603 0.00001
NM_000527.5(LDLR):c.758G>A (p.Arg253Gln) rs139507589 0.00001
NM_000527.5(LDLR):c.91G>A (p.Glu31Lys) rs776421777 0.00001
NM_000527.5(LDLR):c.981C>T (p.His327=) rs1060499933 0.00001
NM_015627.3(LDLRAP1):c.115C>T (p.Arg39Trp) rs201179339 0.00001
NM_015627.3(LDLRAP1):c.208G>A (p.Ala70Thr) rs776857764 0.00001
NM_015627.3(LDLRAP1):c.223G>A (p.Val75Met) rs767491845 0.00001
NM_015627.3(LDLRAP1):c.339A>G (p.Ile113Met) rs780582666 0.00001
NM_015627.3(LDLRAP1):c.34A>G (p.Ile12Val) rs1250534468 0.00001
NM_015627.3(LDLRAP1):c.406C>T (p.Gln136Ter) rs121908325 0.00001
NM_015627.3(LDLRAP1):c.614G>A (p.Ser205Asn) rs750330964 0.00001
NM_015627.3(LDLRAP1):c.617-8C>T rs746302717 0.00001
NM_015627.3(LDLRAP1):c.675G>A (p.Thr225=) rs926407411 0.00001
NM_015627.3(LDLRAP1):c.842T>C (p.Met281Thr) rs1047410438 0.00001
NC_000019.10:g.11089414C>G
NM_000527.4(LDLR):c.313+1G>A
NM_000527.4(LDLR):c.664_681dup18 (p.Asp227_Glu228insCysLysAspLysSerAsp) rs387906306
NM_000527.5(LDLR):c.-188C>T rs878854023
NM_000527.5(LDLR):c.-190C>T rs2077054428
NM_000527.5(LDLR):c.1024G>T (p.Asp342Tyr) rs139361635
NM_000527.5(LDLR):c.1026C>T (p.Asp342=) rs780563386
NM_000527.5(LDLR):c.1027G>A (p.Gly343Ser)
NM_000527.5(LDLR):c.1057G>A (p.Glu353Lys)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.1083C>T (p.Pro361=) rs567564778
NM_000527.5(LDLR):c.1090T>C (p.Cys364Arg)
NM_000527.5(LDLR):c.1118G>A (p.Gly373Asp)
NM_000527.5(LDLR):c.1171G>A (p.Ala391Thr)
NM_000527.5(LDLR):c.1175G>A (p.Cys392Tyr)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1235T>C (p.Met412Thr) rs879254842
NM_000527.5(LDLR):c.1273A>G (p.Asn425Asp) rs1327586053
NM_000527.5(LDLR):c.1291G>A (p.Ala431Thr)
NM_000527.5(LDLR):c.1294C>G (p.Leu432Val) rs730882100
NM_000527.5(LDLR):c.1358+2T>A rs193922567
NM_000527.5(LDLR):c.1358+32C>T
NM_000527.5(LDLR):c.1414G>A (p.Asp472Asn) rs730882102
NM_000527.5(LDLR):c.1429G>A (p.Asp477Asn) rs780316072
NM_000527.5(LDLR):c.1432G>A (p.Gly478Arg)
NM_000527.5(LDLR):c.1478_1479del (p.Ser493fs) rs869025453
NM_000527.5(LDLR):c.148G>A (p.Ala50Thr) rs137853960
NM_000527.5(LDLR):c.1586+5G>C rs781362878
NM_000527.5(LDLR):c.1646G>A (p.Gly549Asp)
NM_000527.5(LDLR):c.1654A>G (p.Ile552Val) rs2077459948
NM_000527.5(LDLR):c.1658_1660del (p.Tyr553del) rs1555806019
NM_000527.5(LDLR):c.1694G>A (p.Gly565Asp) rs28942082
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
NM_000527.5(LDLR):c.1777G>T (p.Gly593Cys) rs544456198
NM_000527.5(LDLR):c.1816G>A (p.Ala606Thr) rs72658865
NM_000527.5(LDLR):c.1828T>C (p.Ser610Pro) rs2077475503
NM_000527.5(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
NM_000527.5(LDLR):c.1985G>A (p.Arg662Lys) rs1568611349
NM_000527.5(LDLR):c.1987+6G>C rs752382813
NM_000527.5(LDLR):c.2043C>A (p.Cys681Ter)
NM_000527.5(LDLR):c.2054C>T (p.Pro685Leu)
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2205C>T (p.Ala735=) rs763213863
NM_000527.5(LDLR):c.2215C>T (p.Gln739Ter) rs370018159
NM_000527.5(LDLR):c.2231G>A (p.Arg744Gln)
NM_000527.5(LDLR):c.2242G>A (p.Asp748Asn) rs150104358
NM_000527.5(LDLR):c.2273G>C (p.Gly758Ala) rs748540948
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2366C>G (p.Ala789Gly) rs1286799492
NM_000527.5(LDLR):c.2390-2A>G rs767790696
NM_000527.5(LDLR):c.2416dup (p.Val806fs)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2496A>G (p.Thr832=) rs1600765476
NM_000527.5(LDLR):c.2546C>A (p.Ser849Ter) rs377437226
NM_000527.5(LDLR):c.2547+9C>T rs746674813
NM_000527.5(LDLR):c.2547G>A (p.Ser849=) rs1249903899
NM_000527.5(LDLR):c.2549_2550del rs1555809910
NM_000527.5(LDLR):c.352G>A (p.Asp118Asn) rs730882080
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr) rs193922571
NM_000527.5(LDLR):c.370C>T (p.Arg124Trp) rs879254498
NM_000527.5(LDLR):c.396G>A (p.Arg132=) rs2077269758
NM_000527.5(LDLR):c.501C>A (p.Cys167Ter)
NM_000527.5(LDLR):c.530C>T (p.Ser177Leu)
NM_000527.5(LDLR):c.542C>G (p.Pro181Arg) rs557344672
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
NM_000527.5(LDLR):c.638G>C (p.Ser213Thr) rs879254604
NM_000527.5(LDLR):c.651TGG[1] (p.Gly219del) rs121908027
NM_000527.5(LDLR):c.660del (p.Asp221fs) rs875989905
NM_000527.5(LDLR):c.661G>A (p.Asp221Asn) rs875989906
NM_000527.5(LDLR):c.662A>G (p.Asp221Gly)
NM_000527.5(LDLR):c.681C>G (p.Asp227Glu) rs121908028
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.682G>C (p.Glu228Gln)
NM_000527.5(LDLR):c.694+25C>T
NM_000527.5(LDLR):c.6del (p.Trp4fs) rs875989888
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.817+9T>C
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.854A>G (p.His285Arg) rs1555803855
NM_000527.5(LDLR):c.859G>T (p.Gly287Cys) rs375495026
NM_000527.5(LDLR):c.90C>G (p.Asn30Lys) rs72658855
NM_000527.5(LDLR):c.940+9C>T
NM_000527.5(LDLR):c.941-39C>T
NM_000527.5(LDLR):c.941-4G>A
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000527.5(LDLR):c.97C>T (p.Gln33Ter)
NM_015627.3(LDLRAP1):c.27G>A (p.Arg9=) rs1340216590
NM_015627.3(LDLRAP1):c.363A>G (p.Ala121=) rs1572039510
NM_015627.3(LDLRAP1):c.459+6C>A rs762507383
NM_015627.3(LDLRAP1):c.533-1G>A rs762148512
NM_015627.3(LDLRAP1):c.603dup (p.Ser202fs) rs781585299
NM_015627.3(LDLRAP1):c.656C>G (p.Ala219Gly) rs1448386026
NM_015627.3(LDLRAP1):c.673A>G (p.Thr225Ala) rs767432973
NM_015627.3(LDLRAP1):c.682G>A (p.Ala228Thr) rs1242550557
NM_015627.3(LDLRAP1):c.71del (p.Gly24fs) rs1201229554
NM_015627.3(LDLRAP1):c.71dup (p.Gly25fs) rs1201229554
NM_015627.3(LDLRAP1):c.89-1G>C rs755104973

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