ClinVar Miner

List of variants studied for autosomal dominant polycystic liver disease by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 348
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HGVS dbSNP gnomAD frequency
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_024079.5(ALG8):c.175-18C>A rs73501260 0.00743
NM_001289104.2(PRKCSH):c.351-5C>T rs76485217 0.00604
NM_001289104.2(PRKCSH):c.469-10G>A rs188022793 0.00354
NM_002335.4(LRP5):c.2139G>A (p.Val713=) rs34369535 0.00322
NM_002335.4(LRP5):c.4278T>C (p.Tyr1426=) rs142328132 0.00250
NM_002335.4(LRP5):c.4431C>T (p.His1477=) rs11574426 0.00238
NM_002335.4(LRP5):c.3256A>G (p.Met1086Val) rs145774832 0.00208
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560 0.00207
NM_002335.4(LRP5):c.1968C>T (p.His656=) rs144847027 0.00194
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_002335.4(LRP5):c.2828-18T>C rs200093926 0.00145
NM_002335.4(LRP5):c.4488+20A>G rs554995200 0.00145
NM_001289104.2(PRKCSH):c.807C>T (p.Tyr269=) rs201337319 0.00125
NM_002335.4(LRP5):c.2193C>T (p.Asn731=) rs147388442 0.00108
NM_002335.4(LRP5):c.1221G>A (p.Ala407=) rs150970251 0.00106
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=) rs139554243 0.00100
NM_002335.4(LRP5):c.2529C>T (p.Asp843=) rs143204891 0.00099
NM_007214.5(SEC63):c.1278C>T (p.Phe426=) rs146559698 0.00093
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_007214.5(SEC63):c.340-7T>C rs1569557 0.00081
NM_002335.4(LRP5):c.4112-14T>C rs200717286 0.00078
NM_001289104.2(PRKCSH):c.834C>T (p.Asp278=) rs139969239 0.00077
NM_007214.5(SEC63):c.1441-4C>G rs200112157 0.00071
NM_001289104.2(PRKCSH):c.1092G>A (p.Pro364=) rs142347308 0.00066
NM_002335.4(LRP5):c.4348+3A>G rs61375162 0.00061
NM_002335.4(LRP5):c.686+13G>A rs377344481 0.00059
NM_002335.4(LRP5):c.1015+17G>C rs374132632 0.00055
NM_001289104.2(PRKCSH):c.438G>A (p.Glu146=) rs143369158 0.00053
NM_002335.4(LRP5):c.3285C>T (p.Arg1095=) rs80038357 0.00053
NM_002335.4(LRP5):c.2046T>C (p.Phe682=) rs61740517 0.00050
NM_002335.4(LRP5):c.4348+19G>A rs112052770 0.00048
NM_024079.5(ALG8):c.1507A>G (p.Ile503Val) rs17856033 0.00041
NM_002335.4(LRP5):c.2763C>T (p.Pro921=) rs147158768 0.00039
NM_002335.4(LRP5):c.4000+11C>G rs367615138 0.00039
NM_007214.5(SEC63):c.230T>C (p.Ile77Thr) rs140251976 0.00036
NM_002335.4(LRP5):c.1248C>T (p.Asn416=) rs149682423 0.00032
NM_002335.4(LRP5):c.2226C>T (p.Ile742=) rs147932332 0.00032
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00032
NM_002335.4(LRP5):c.2503+10G>A rs191125304 0.00031
NM_007214.5(SEC63):c.574-20C>G rs369895256 0.00024
NM_024079.5(ALG8):c.1285A>G (p.Ile429Val) rs200068321 0.00023
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp) rs746231889 0.00022
NM_002335.4(LRP5):c.1395A>C (p.Ala465=) rs200075657 0.00022
NM_002335.4(LRP5):c.488+15G>A rs370558169 0.00022
NM_002335.4(LRP5):c.1134C>T (p.Ile378=) rs139130382 0.00021
NM_002335.4(LRP5):c.1605G>A (p.Thr535=) rs141896162 0.00021
NM_002335.4(LRP5):c.3879G>A (p.Glu1293=) rs759175453 0.00021
NM_002335.4(LRP5):c.4689C>T (p.Tyr1563=) rs149752460 0.00021
NM_024079.5(ALG8):c.175-13A>G rs186117363 0.00021
NM_002335.4(LRP5):c.2358C>T (p.Ile786=) rs140616444 0.00019
NM_002335.4(LRP5):c.4077C>T (p.Pro1359=) rs143482432 0.00019
NM_002335.4(LRP5):c.4247C>T (p.Ala1416Val) rs376164225 0.00019
NM_007214.5(SEC63):c.1210-7T>A rs201986291 0.00019
NM_002335.4(LRP5):c.3954C>T (p.Asp1318=) rs201352823 0.00018
NM_002335.4(LRP5):c.2115C>T (p.Asn705=) rs145456776 0.00017
NM_002335.4(LRP5):c.2766C>T (p.Gly922=) rs139372523 0.00016
NM_002335.4(LRP5):c.3237-5C>T rs376163277 0.00016
NM_002335.4(LRP5):c.488+11dup rs771667608 0.00016
NM_007214.5(SEC63):c.340-8T>C rs1569556 0.00016
NM_002335.4(LRP5):c.1199C>T (p.Ala400Val) rs201320326 0.00014
NM_002335.4(LRP5):c.295G>A (p.Val99Met) rs768918663 0.00014
NM_001289104.2(PRKCSH):c.1283A>C (p.Asn428Thr) rs34318718 0.00013
NM_001289104.2(PRKCSH):c.1392C>T (p.His464=) rs200928002 0.00013
NM_001289104.2(PRKCSH):c.752C>T (p.Ala251Val) rs138530475 0.00013
NM_002335.4(LRP5):c.3279C>G (p.Ile1093Met) rs140852936 0.00013
NM_002335.4(LRP5):c.2175T>C (p.Val725=) rs200570645 0.00012
NM_002335.4(LRP5):c.2236C>T (p.Arg746Trp) rs201916993 0.00012
NM_002335.4(LRP5):c.3888C>T (p.Pro1296=) rs752439831 0.00012
NM_007214.5(SEC63):c.2025T>A (p.Asp675Glu) rs141211769 0.00012
NM_001289104.2(PRKCSH):c.60C>T (p.Pro20=) rs138449875 0.00011
NM_002335.4(LRP5):c.164C>T (p.Ser55Phe) rs148462220 0.00011
NM_002335.4(LRP5):c.3586G>A (p.Ala1196Thr) rs199887400 0.00011
NM_002335.4(LRP5):c.3600C>T (p.Gly1200=) rs202207765 0.00011
NM_002335.4(LRP5):c.3837C>T (p.Arg1279=) rs372930578 0.00011
NM_002335.4(LRP5):c.4111+19C>T rs377000624 0.00011
NM_002335.4(LRP5):c.4137C>T (p.Asp1379=) rs139755343 0.00011
NM_002335.4(LRP5):c.714G>A (p.Thr238=) rs149522146 0.00011
NM_001289104.2(PRKCSH):c.-77-2A>C rs201157643 0.00010
NM_002335.4(LRP5):c.1016-19A>G rs373782074 0.00010
NM_002335.4(LRP5):c.1744A>G (p.Ile582Val) rs1056743758 0.00010
NM_002335.4(LRP5):c.4349-17C>T rs372086596 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_002335.4(LRP5):c.1412+12G>A rs189423416 0.00009
NM_002335.4(LRP5):c.3028C>T (p.Pro1010Ser) rs201793593 0.00009
NM_002335.4(LRP5):c.3870C>T (p.Ser1290=) rs749656764 0.00009
NM_002335.4(LRP5):c.4391T>C (p.Met1464Thr) rs113007633 0.00009
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu) rs80291963 0.00009
NM_007214.5(SEC63):c.807G>A (p.Thr269=) rs182467867 0.00009
NM_024079.5(ALG8):c.1178+7A>G rs766278533 0.00009
NM_001289104.2(PRKCSH):c.1476C>T (p.Cys492=) rs770480368 0.00008
NM_001289104.2(PRKCSH):c.1536G>A (p.Glu512=) rs374970694 0.00008
NM_001289104.2(PRKCSH):c.762+2T>C rs112915100 0.00008
NM_002335.4(LRP5):c.1132A>G (p.Ile378Val) rs369747444 0.00008
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr) rs149166384 0.00008
NM_002335.4(LRP5):c.4016A>G (p.Asn1339Ser) rs142001526 0.00008
NM_001289104.2(PRKCSH):c.251C>T (p.Pro84Leu) rs370857637 0.00007
NM_001289104.2(PRKCSH):c.279C>T (p.Asn93=) rs777837737 0.00007
NM_002335.4(LRP5):c.1283G>A (p.Arg428Gln) rs770223547 0.00007
NM_002335.4(LRP5):c.1328C>T (p.Thr443Met) rs200416179 0.00007
NM_002335.4(LRP5):c.1585-10C>T rs200827533 0.00007
NM_002335.4(LRP5):c.3655C>T (p.Arg1219Cys) rs139847357 0.00007
NM_002335.4(LRP5):c.4065C>T (p.Cys1355=) rs770762272 0.00007
NM_024079.5(ALG8):c.1349+5T>C rs886048685 0.00007
NM_001289104.2(PRKCSH):c.1590C>T (p.Asp530=) rs147203239 0.00006
NM_001289104.2(PRKCSH):c.543G>C (p.Glu181Asp) rs370840119 0.00006
NM_001289104.2(PRKCSH):c.683+9C>A rs367735502 0.00006
NM_002335.4(LRP5):c.1077G>A (p.Thr359=) rs200179967 0.00006
NM_002335.4(LRP5):c.1636C>T (p.Pro546Ser) rs774097621 0.00006
NM_002335.4(LRP5):c.1642A>G (p.Ile548Val) rs201576246 0.00006
NM_002335.4(LRP5):c.2951A>G (p.Tyr984Cys) rs759674127 0.00006
NM_002335.4(LRP5):c.3220G>A (p.Val1074Ile) rs376914943 0.00006
NM_002335.4(LRP5):c.3337C>T (p.Arg1113Cys) rs377258285 0.00006
NM_002335.4(LRP5):c.4566G>A (p.Pro1522=) rs368178411 0.00006
NM_002335.4(LRP5):c.4610C>T (p.Ala1537Val) rs753256748 0.00006
NM_002335.4(LRP5):c.4754C>T (p.Ser1585Leu) rs377323023 0.00006
NM_024079.5(ALG8):c.-7C>T rs542407081 0.00006
NM_002335.4(LRP5):c.2393C>T (p.Thr798Met) rs371155552 0.00005
NM_002335.4(LRP5):c.2827+5G>A rs373365240 0.00005
NM_002335.4(LRP5):c.4489-6C>T rs377737536 0.00005
NM_002335.4(LRP5):c.4517C>T (p.Thr1506Met) rs371173423 0.00005
NM_002335.4(LRP5):c.4616C>T (p.Pro1539Leu) rs148725079 0.00005
NM_002335.4(LRP5):c.4782C>T (p.Pro1594=) rs752602099 0.00005
NM_002335.4(LRP5):c.680C>T (p.Ser227Leu) rs200384949 0.00005
NM_001289104.2(PRKCSH):c.627G>T (p.Gln209His) rs775259637 0.00004
NM_001289104.2(PRKCSH):c.678C>T (p.Asp226=) rs539988285 0.00004
NM_001289104.2(PRKCSH):c.683C>T (p.Thr228Met) rs149787198 0.00004
NM_001289104.2(PRKCSH):c.914C>T (p.Pro305Leu) rs201385707 0.00004
NM_002335.4(LRP5):c.1226C>T (p.Thr409Met) rs199686378 0.00004
NM_002335.4(LRP5):c.1563C>T (p.Asp521=) rs750457614 0.00004
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys) rs377144001 0.00004
NM_002335.4(LRP5):c.2015C>T (p.Thr672Met) rs575865236 0.00004
NM_002335.4(LRP5):c.2414G>A (p.Arg805Gln) rs565245995 0.00004
NM_002335.4(LRP5):c.249C>T (p.Ser83=) rs375802434 0.00004
NM_002335.4(LRP5):c.2515G>A (p.Val839Ile) rs974320602 0.00004
NM_002335.4(LRP5):c.2518G>A (p.Val840Met) rs757262154 0.00004
NM_002335.4(LRP5):c.284C>T (p.Thr95Met) rs777743208 0.00004
NM_002335.4(LRP5):c.3018C>T (p.Asp1006=) rs146792434 0.00004
NM_002335.4(LRP5):c.3196C>T (p.Arg1066Cys) rs201285828 0.00004
NM_002335.4(LRP5):c.3310G>A (p.Glu1104Lys) rs767690779 0.00004
NM_002335.4(LRP5):c.3453C>T (p.Asp1151=) rs147175387 0.00004
NM_002335.4(LRP5):c.3852C>T (p.Pro1284=) rs144115017 0.00004
NM_002335.4(LRP5):c.3917C>T (p.Ala1306Val) rs772148405 0.00004
NM_002335.4(LRP5):c.4142C>T (p.Pro1381Leu) rs369637767 0.00004
NM_002335.4(LRP5):c.4226G>A (p.Arg1409His) rs765378705 0.00004
NM_002335.4(LRP5):c.4319C>T (p.Pro1440Leu) rs528693139 0.00004
NM_002335.4(LRP5):c.4445C>T (p.Ser1482Leu) rs778004788 0.00004
NM_002335.4(LRP5):c.489-7G>A rs560234502 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002335.4(LRP5):c.924C>T (p.His308=) rs756215440 0.00004
NM_007214.5(SEC63):c.453-11T>C rs374073392 0.00004
NM_024079.5(ALG8):c.337A>G (p.Met113Val) rs140499974 0.00004
NM_024079.5(ALG8):c.898G>A (p.Gly300Ser) rs758154434 0.00004
NM_002335.4(LRP5):c.1096G>A (p.Val366Met) rs367543496 0.00003
NM_002335.4(LRP5):c.2173G>A (p.Val725Ile) rs769035778 0.00003
NM_002335.4(LRP5):c.3829G>T (p.Ala1277Ser) rs754686025 0.00003
NM_002335.4(LRP5):c.4068C>T (p.Asp1356=) rs367555198 0.00003
NM_002335.4(LRP5):c.407A>C (p.Asn136Thr) rs759063931 0.00003
NM_002335.4(LRP5):c.408C>A (p.Asn136Lys) rs752352965 0.00003
NM_002335.4(LRP5):c.4112-18T>C rs549631739 0.00003
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu) rs748143518 0.00003
NM_002335.4(LRP5):c.4297G>A (p.Val1433Met) rs199871539 0.00003
NM_002335.4(LRP5):c.523C>T (p.Arg175Trp) rs373823574 0.00003
NM_002335.4(LRP5):c.556C>T (p.Arg186Trp) rs200484935 0.00003
NM_002335.4(LRP5):c.883+9C>T rs543311335 0.00003
NM_007214.5(SEC63):c.1441-5C>T rs370312823 0.00003
NM_024079.5(ALG8):c.1117T>C (p.Ser373Pro) rs558379335 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_024079.5(ALG8):c.673+4A>G rs1470636347 0.00003
NM_001289104.2(PRKCSH):c.1099G>A (p.Asp367Asn) rs764376521 0.00002
NM_001289104.2(PRKCSH):c.753G>A (p.Ala251=) rs756127892 0.00002
NM_001289104.2(PRKCSH):c.975G>A (p.Glu325=) rs775357974 0.00002
NM_002335.4(LRP5):c.1076C>T (p.Thr359Met) rs746292760 0.00002
NM_002335.4(LRP5):c.148G>A (p.Gly50Arg) rs558895370 0.00002
NM_002335.4(LRP5):c.1519G>A (p.Gly507Ser) rs765290711 0.00002
NM_002335.4(LRP5):c.1801+9G>A rs747941034 0.00002
NM_002335.4(LRP5):c.1923C>T (p.Ile641=) rs17848264 0.00002
NM_002335.4(LRP5):c.2022C>T (p.Val674=) rs748257457 0.00002
NM_002335.4(LRP5):c.2123C>T (p.Ser708Leu) rs532035027 0.00002
NM_002335.4(LRP5):c.2134G>A (p.Val712Met) rs765239493 0.00002
NM_002335.4(LRP5):c.2449C>T (p.Arg817Cys) rs775431782 0.00002
NM_002335.4(LRP5):c.2695C>T (p.Arg899Cys) rs760734426 0.00002
NM_002335.4(LRP5):c.2827C>T (p.Pro943Ser) rs776554205 0.00002
NM_002335.4(LRP5):c.3307C>T (p.Arg1103Cys) rs768840999 0.00002
NM_002335.4(LRP5):c.3427+12G>A rs756103866 0.00002
NM_002335.4(LRP5):c.3606T>C (p.His1202=) rs779308864 0.00002
NM_002335.4(LRP5):c.3637+4C>T rs746451473 0.00002
NM_002335.4(LRP5):c.3656G>A (p.Arg1219His) rs143924910 0.00002
NM_002335.4(LRP5):c.3679A>G (p.Ile1227Val) rs949211640 0.00002
NM_002335.4(LRP5):c.3873C>T (p.Asp1291=) rs1036528598 0.00002
NM_002335.4(LRP5):c.4106T>C (p.Met1369Thr) rs746686714 0.00002
NM_002335.4(LRP5):c.4139G>T (p.Ser1380Ile) rs1300430679 0.00002
NM_002335.4(LRP5):c.4248G>A (p.Ala1416=) rs17848257 0.00002
NM_002335.4(LRP5):c.4432G>A (p.Val1478Ile) rs758606794 0.00002
NM_002335.4(LRP5):c.4638C>T (p.Asp1546=) rs777923928 0.00002
NM_024079.5(ALG8):c.897C>T (p.Ile299=) rs886048686 0.00002
NM_024079.5(ALG8):c.95+16G>A rs376357429 0.00002
NM_001289104.2(PRKCSH):c.1005C>T (p.Ser335=) rs145740877 0.00001
NM_001289104.2(PRKCSH):c.324C>T (p.Ser108=) rs368596083 0.00001
NM_001289104.2(PRKCSH):c.37T>C (p.Trp13Arg) rs570440031 0.00001
NM_002335.4(LRP5):c.1016-10G>A rs1271777311 0.00001
NM_002335.4(LRP5):c.1021G>A (p.Glu341Lys) rs184945579 0.00001
NM_002335.4(LRP5):c.1304C>T (p.Thr435Met) rs777314081 0.00001
NM_002335.4(LRP5):c.130C>T (p.Arg44Trp) rs371690402 0.00001
NM_002335.4(LRP5):c.1310C>T (p.Thr437Met) rs370901051 0.00001
NM_002335.4(LRP5):c.1337A>G (p.Asn446Ser) rs771268909 0.00001
NM_002335.4(LRP5):c.1484G>A (p.Arg495His) rs200409162 0.00001
NM_002335.4(LRP5):c.1693C>T (p.Arg565Cys) rs745350421 0.00001
NM_002335.4(LRP5):c.1707G>A (p.Glu569=) rs199707305 0.00001
NM_002335.4(LRP5):c.1910T>C (p.Met637Thr) rs1045994595 0.00001
NM_002335.4(LRP5):c.1960G>A (p.Ala654Thr) rs747131775 0.00001
NM_002335.4(LRP5):c.2020G>A (p.Val674Ile) rs543279405 0.00001
NM_002335.4(LRP5):c.2051T>C (p.Val684Ala) rs1339222045 0.00001
NM_002335.4(LRP5):c.2137G>C (p.Val713Leu) rs751720886 0.00001
NM_002335.4(LRP5):c.220A>G (p.Lys74Glu) rs765603774 0.00001
NM_002335.4(LRP5):c.2265C>T (p.Leu755=) rs1022762292 0.00001
NM_002335.4(LRP5):c.2431A>G (p.Ile811Val) rs758364834 0.00001
NM_002335.4(LRP5):c.2548G>A (p.Gly850Ser) rs776947784 0.00001
NM_002335.4(LRP5):c.2555C>T (p.Thr852Met) rs1398692057 0.00001
NM_002335.4(LRP5):c.2609G>A (p.Arg870Gln) rs774814837 0.00001
NM_002335.4(LRP5):c.2625C>T (p.Ser875=) rs999634205 0.00001
NM_002335.4(LRP5):c.2639C>A (p.Thr880Asn) rs768364811 0.00001
NM_002335.4(LRP5):c.2688C>T (p.His896=) rs1395883769 0.00001
NM_002335.4(LRP5):c.2737dup (p.Cys913fs) rs886043590 0.00001
NM_002335.4(LRP5):c.2764G>A (p.Gly922Ser) rs773895575 0.00001
NM_002335.4(LRP5):c.2767G>A (p.Gly923Ser) rs771724060 0.00001
NM_002335.4(LRP5):c.2828-15C>T rs951283192 0.00001
NM_002335.4(LRP5):c.3148G>A (p.Val1050Ile) rs577519439 0.00001
NM_002335.4(LRP5):c.3227C>T (p.Ala1076Val) rs761682970 0.00001
NM_002335.4(LRP5):c.3233G>A (p.Arg1078Gln) rs371323193 0.00001
NM_002335.4(LRP5):c.3280G>A (p.Glu1094Lys) rs1433868957 0.00001
NM_002335.4(LRP5):c.3298G>A (p.Gly1100Ser) rs770787447 0.00001
NM_002335.4(LRP5):c.3407T>C (p.Ile1136Thr) rs776839535 0.00001
NM_002335.4(LRP5):c.358A>G (p.Lys120Glu) rs752483392 0.00001
NM_002335.4(LRP5):c.3614A>C (p.Glu1205Ala) rs1260043027 0.00001
NM_002335.4(LRP5):c.3733G>A (p.Val1245Met) rs1215728276 0.00001
NM_002335.4(LRP5):c.3836G>A (p.Arg1279His) rs145293239 0.00001
NM_002335.4(LRP5):c.3919C>T (p.Arg1307Trp) rs370347973 0.00001
NM_002335.4(LRP5):c.3920G>A (p.Arg1307Gln) rs760090713 0.00001
NM_002335.4(LRP5):c.3947G>A (p.Arg1316His) rs780957124 0.00001
NM_002335.4(LRP5):c.3951C>T (p.Cys1317=) rs141306017 0.00001
NM_002335.4(LRP5):c.4000+15G>A rs563578294 0.00001
NM_002335.4(LRP5):c.4036G>A (p.Gly1346Ser) rs747638441 0.00001
NM_002335.4(LRP5):c.4066G>A (p.Asp1356Asn) rs1257556169 0.00001
NM_002335.4(LRP5):c.4143G>A (p.Pro1381=) rs759659671 0.00001
NM_002335.4(LRP5):c.4167C>T (p.Pro1389=) rs780535389 0.00001
NM_002335.4(LRP5):c.4168G>A (p.Val1390Ile) rs745582449 0.00001
NM_002335.4(LRP5):c.4258G>A (p.Gly1420Arg) rs778832210 0.00001
NM_002335.4(LRP5):c.425G>A (p.Arg142Gln) rs368198391 0.00001
NM_002335.4(LRP5):c.4269G>A (p.Pro1423=) rs139701701 0.00001
NM_002335.4(LRP5):c.4324G>A (p.Gly1442Ser) rs778882996 0.00001
NM_002335.4(LRP5):c.4420G>A (p.Asp1474Asn) rs959633003 0.00001
NM_002335.4(LRP5):c.4518G>A (p.Thr1506=) rs764288902 0.00001
NM_002335.4(LRP5):c.4561A>G (p.Ile1521Val) rs1371991892 0.00001
NM_002335.4(LRP5):c.4586+3A>G rs374747007 0.00001
NM_002335.4(LRP5):c.4609G>A (p.Ala1537Thr) rs144376510 0.00001
NM_002335.4(LRP5):c.4720C>G (p.Pro1574Ala) rs748088266 0.00001
NM_002335.4(LRP5):c.4757C>T (p.Ala1586Val) rs767157733 0.00001
NM_002335.4(LRP5):c.739G>A (p.Gly247Arg) rs773226526 0.00001
NM_007214.5(SEC63):c.2028A>G (p.Thr676=) rs781747090 0.00001
NM_007214.5(SEC63):c.452+3A>G rs767207844 0.00001
NM_024079.5(ALG8):c.1276+10G>A rs531081999 0.00001
NM_024079.5(ALG8):c.1460A>G (p.Tyr487Cys) rs777557874 0.00001
NM_024079.5(ALG8):c.1578A>G (p.Gln526=) rs479612 0.00001
NM_024079.5(ALG8):c.368+2T>G rs756894409 0.00001
NM_024079.5(ALG8):c.382A>G (p.Ile128Val) rs111831728 0.00001
NM_024079.5(ALG8):c.546+12T>G rs1169043575 0.00001
NM_024079.5(ALG8):c.95+1G>A rs1323512637 0.00001
NM_024079.5(ALG8):c.981dup (p.Val328fs) rs777686455 0.00001
NM_001289104.2(PRKCSH):c.1290C>G (p.Tyr430Ter) rs121918520
NM_001289104.2(PRKCSH):c.1338C>T (p.Leu446=) rs540593191
NM_001289104.2(PRKCSH):c.1569G>T (p.Pro523=) rs149505716
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs) rs779685748
NM_001289104.2(PRKCSH):c.564_567del (p.Glu189fs) rs749223361
NM_001289104.2(PRKCSH):c.683+1G>A rs2144837651
NM_002335.4(LRP5):c.1015+19_1015+23del rs761661947
NM_002335.4(LRP5):c.1282C>T (p.Arg428Ter) rs121908661
NM_002335.4(LRP5):c.1392C>T (p.Ile464=) rs569443429
NM_002335.4(LRP5):c.1412+11C>T rs202149761
NM_002335.4(LRP5):c.143C>G (p.Ala48Gly) rs2098614549
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln) rs121908664
NM_002335.4(LRP5):c.1592A>G (p.Asn531Ser) rs2098653807
NM_002335.4(LRP5):c.1594G>C (p.Val532Leu) rs1554969579
NM_002335.4(LRP5):c.1675T>C (p.Tyr559His) rs2153162994
NM_002335.4(LRP5):c.1887C>T (p.Ile629=) rs140958524
NM_002335.4(LRP5):c.1990AAC[1] (p.Asn665del) rs780882911
NM_002335.4(LRP5):c.201A>C (p.Ala67=) rs540291726
NM_002335.4(LRP5):c.2047G>A (p.Asp683Asn) rs1470530779
NM_002335.4(LRP5):c.2317G>A (p.Gly773Ser) rs775353605
NM_002335.4(LRP5):c.2318+3_2318+6del rs1292196959
NM_002335.4(LRP5):c.2334C>T (p.Thr778=) rs753035383
NM_002335.4(LRP5):c.2359G>A (p.Val787Met) rs778567335
NM_002335.4(LRP5):c.2437T>C (p.Tyr813His) rs936323278
NM_002335.4(LRP5):c.2504-16GT[3] rs531798381
NM_002335.4(LRP5):c.2513G>A (p.Arg838Gln) rs559129140
NM_002335.4(LRP5):c.2779G>A (p.Gly927Ser) rs764138752
NM_002335.4(LRP5):c.3016G>A (p.Asp1006Asn) rs147758521
NM_002335.4(LRP5):c.3057C>T (p.Gly1019=) rs772416019
NM_002335.4(LRP5):c.3107G>T (p.Arg1036Leu) rs61889560
NM_002335.4(LRP5):c.3187C>T (p.Arg1063Cys) rs753926639
NM_002335.4(LRP5):c.3237-16C>A rs748779058
NM_002335.4(LRP5):c.3391G>A (p.Ala1131Thr) rs1272835374
NM_002335.4(LRP5):c.3404G>A (p.Arg1135His) rs560826688
NM_002335.4(LRP5):c.34CTG[4] (p.Leu16_Leu20del) rs72555376
NM_002335.4(LRP5):c.3528G>A (p.Met1176Ile) rs148217741
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp) rs141178995
NM_002335.4(LRP5):c.35T>A (p.Leu12Gln) rs1019409513
NM_002335.4(LRP5):c.3638-19T>C rs1591317491
NM_002335.4(LRP5):c.3782C>G (p.Pro1261Arg) rs764259701
NM_002335.4(LRP5):c.3782C>T (p.Pro1261Leu) rs764259701
NM_002335.4(LRP5):c.3955G>A (p.Gly1319Ser) rs968164869
NM_002335.4(LRP5):c.4025G>C (p.Arg1342Pro) rs150088620
NM_002335.4(LRP5):c.4045G>A (p.Val1349Ile) rs2098675334
NM_002335.4(LRP5):c.4135G>A (p.Asp1379Asn) rs1008752977
NM_002335.4(LRP5):c.4199T>C (p.Met1400Thr) rs2153181249
NM_002335.4(LRP5):c.4252G>A (p.Ala1418Thr) rs2153181307
NM_002335.4(LRP5):c.4277A>G (p.Tyr1426Cys) rs931583330
NM_002335.4(LRP5):c.4297G>T (p.Val1433Leu) rs199871539
NM_002335.4(LRP5):c.4454_4465del (p.Ser1485_Ser1488del) rs774251511
NM_002335.4(LRP5):c.4667G>A (p.Arg1556His) rs764447598
NM_002335.4(LRP5):c.533G>A (p.Arg178Gln) rs183377804
NM_002335.4(LRP5):c.533G>T (p.Arg178Leu) rs183377804
NM_002335.4(LRP5):c.575C>T (p.Ser192Leu) rs549579496
NM_007214.5(SEC63):c.1188_1191dup (p.Val398fs) rs1787039042
NM_007214.5(SEC63):c.1210-18dup rs370485907
NM_007214.5(SEC63):c.125-13del rs565329945
NM_007214.5(SEC63):c.1605dup (p.Pro536fs) rs752868449
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter) rs2114403750
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter) rs768615942
NM_007214.5(SEC63):c.1936-11_1936-9del rs749125299
NM_007214.5(SEC63):c.1936-27_1936-25dup rs749125299
NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala) rs755716600
NM_007214.5(SEC63):c.340-12_340-7delinsCCCC rs1554237221
NM_007214.5(SEC63):c.340-12_340-8del rs747514864
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter) rs755795110
NM_007214.5(SEC63):c.733+1G>A rs886041028
NM_007214.5(SEC63):c.961+14C>T rs143606782
NM_024079.5(ALG8):c.121C>T (p.Arg41Ter) rs200888240
NM_024079.5(ALG8):c.1293C>G (p.Ile431Met) rs376704970
NM_024079.5(ALG8):c.139A>C (p.Thr47Pro) rs121908293
NM_024079.5(ALG8):c.1443C>G (p.Thr481=) rs746756065
NM_024079.5(ALG8):c.761dup (p.Pro255fs) rs968741434
NM_024079.5(ALG8):c.772G>A (p.Ala258Thr) rs1860433537
NM_024079.5(ALG8):c.802del (p.Arg268fs) rs2136899636
NM_024079.5(ALG8):c.824G>A (p.Gly275Asp) rs121908294
NM_024079.5(ALG8):c.830_831delinsCA (p.Cys277Ser) rs1565349263

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