ClinVar Miner

List of variants studied for Sitosterolemia

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ClinVar version:
Total variants: 367
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HGVS dbSNP gnomAD frequency
NM_022437.3(ABCG8):c.-19T>G rs3806471 0.36621
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_022436.3(ABCG5):c.148C>T (p.Arg50Cys) rs6756629 0.06788
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534 0.06566
NM_022437.3(ABCG8):c.-15A>C rs72647315 0.03755
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg) rs78070897 0.01539
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser) rs17031672 0.01119
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_022436.3(ABCG5):c.1763-7T>G rs114780578 0.00288
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00275
NM_022436.3(ABCG5):c.293C>G (p.Ala98Gly) rs145164937 0.00198
NM_022436.3(ABCG5):c.1284C>T (p.Gly428=) rs143972075 0.00186
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00185
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00160
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_022436.3(ABCG5):c.50T>G (p.Val17Gly) rs72542427 0.00132
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00121
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00107
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00103
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00099
NM_022436.3(ABCG5):c.501+11C>A rs530079060 0.00067
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) rs147061424 0.00060
NM_022436.3(ABCG5):c.1806C>T (p.Phe602=) rs150716811 0.00052
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_022436.3(ABCG5):c.235G>A (p.Gly79Arg) rs142125966 0.00047
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) rs149907931 0.00046
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00035
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) rs72542428 0.00033
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) rs143444046 0.00031
NM_022436.3(ABCG5):c.265+10G>A rs140341571 0.00029
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00028
NM_022436.3(ABCG5):c.431T>C (p.Val144Ala) rs376797531 0.00026
NM_022436.3(ABCG5):c.1118+17T>C rs183257361 0.00025
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_022436.3(ABCG5):c.634+3A>G rs374755597 0.00024
NM_022436.3(ABCG5):c.1118+13C>G rs371609600 0.00021
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_022436.3(ABCG5):c.1347C>T (p.Ser449=) rs139361486 0.00019
NM_022436.3(ABCG5):c.775-7T>A rs201469377 0.00016
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) rs149418765 0.00015
NM_022436.3(ABCG5):c.226G>A (p.Val76Met) rs368811625 0.00014
NM_022437.3(ABCG8):c.1234C>T (p.Arg412Ter) rs137852991 0.00013
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_022436.3(ABCG5):c.905-3T>C rs754306032 0.00011
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00010
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) rs1212418813 0.00010
NM_022436.3(ABCG5):c.775-17G>A rs368001054 0.00010
NM_022436.3(ABCG5):c.112C>G (p.Leu38Val) rs375829761 0.00009
NM_022436.3(ABCG5):c.1164G>A (p.Thr388=) rs145755348 0.00009
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) rs146534033 0.00009
NM_022436.3(ABCG5):c.1348G>A (p.Asp450Asn) rs530616214 0.00008
NM_022437.3(ABCG8):c.1715T>C (p.Leu572Pro) rs769576789 0.00008
NM_022437.3(ABCG8):c.1974C>G (p.Tyr658Ter) rs137852989 0.00008
NM_022436.3(ABCG5):c.116G>A (p.Gly39Asp) rs371929020 0.00007
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=) rs767584159 0.00007
NM_022436.3(ABCG5):c.758G>A (p.Arg253His) rs148186696 0.00007
NM_022436.3(ABCG5):c.1324+13G>A rs773653057 0.00006
NM_022436.3(ABCG5):c.1329C>T (p.Pro443=) rs201620171 0.00006
NM_022436.3(ABCG5):c.1410C>T (p.His470=) rs369709495 0.00006
NM_022436.3(ABCG5):c.1425C>T (p.Ser475=) rs201506122 0.00006
NM_022436.3(ABCG5):c.1762+11T>C rs566834640 0.00006
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr) rs374012053 0.00006
NM_022436.3(ABCG5):c.78G>T (p.Glu26Asp) rs144622073 0.00006
NM_022436.3(ABCG5):c.98C>G (p.Pro33Arg) rs778605187 0.00006
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00006
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val) rs756376137 0.00005
NM_022436.3(ABCG5):c.1180C>T (p.Leu394=) rs771802286 0.00005
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp) rs752962014 0.00005
NM_022436.3(ABCG5):c.1758T>C (p.Thr586=) rs141053836 0.00005
NM_022436.3(ABCG5):c.392A>G (p.Tyr131Cys) rs569748582 0.00005
NM_022436.3(ABCG5):c.453C>A (p.Thr151=) rs753629544 0.00005
NM_022436.3(ABCG5):c.-76C>T rs560839317 0.00004
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=) rs373514009 0.00004
NM_022436.3(ABCG5):c.1411G>A (p.Val471Ile) rs143402711 0.00004
NM_022436.3(ABCG5):c.143+9G>C rs1377714293 0.00004
NM_022436.3(ABCG5):c.1569C>T (p.Ile523=) rs376969021 0.00004
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) rs200839584 0.00004
NM_022436.3(ABCG5):c.238C>A (p.Gln80Lys) rs373819340 0.00004
NM_022436.3(ABCG5):c.403-8T>C rs776050632 0.00004
NM_022436.3(ABCG5):c.433C>T (p.Arg145Cys) rs866515397 0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_022436.3(ABCG5):c.751C>T (p.Gln251Ter) rs140111105 0.00004
NM_022436.3(ABCG5):c.849C>T (p.Phe283=) rs370806483 0.00004
NM_022436.3(ABCG5):c.915G>A (p.Thr305=) rs773296588 0.00004
NM_022436.3(ABCG5):c.1209C>T (p.Phe403=) rs765896139 0.00003
NM_022436.3(ABCG5):c.1215G>A (p.Leu405=) rs758152766 0.00003
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile) rs747481748 0.00003
NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys) rs150002815 0.00003
NM_022436.3(ABCG5):c.1337G>A (p.Arg446Gln) rs536081800 0.00003
NM_022436.3(ABCG5):c.1462T>C (p.Trp488Arg) rs1299933608 0.00003
NM_022436.3(ABCG5):c.1770A>C (p.Ser590=) rs1280347803 0.00003
NM_022436.3(ABCG5):c.181C>T (p.Arg61Trp) rs766545187 0.00003
NM_022436.3(ABCG5):c.182G>A (p.Arg61Gln) rs149599171 0.00003
NM_022436.3(ABCG5):c.543A>C (p.Ala181=) rs767751451 0.00003
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser) rs895337448 0.00003
NM_022436.3(ABCG5):c.731T>C (p.Ile244Thr) rs371924715 0.00003
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys) rs779132190 0.00003
NM_022436.3(ABCG5):c.774+17G>A rs569579029 0.00003
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) rs368800131 0.00003
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) rs373182673 0.00003
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) rs770254073 0.00002
NM_022436.3(ABCG5):c.1205T>C (p.Phe402Ser) rs746374174 0.00002
NM_022436.3(ABCG5):c.1259T>G (p.Val420Gly) rs773630787 0.00002
NM_022436.3(ABCG5):c.1324+11A>G rs764721117 0.00002
NM_022436.3(ABCG5):c.1467G>A (p.Thr489=) rs765708869 0.00002
NM_022436.3(ABCG5):c.1657C>T (p.Gln553Ter) rs1171022283 0.00002
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) rs756339433 0.00002
NM_022436.3(ABCG5):c.402+19C>A rs2104864932 0.00002
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) rs141386201 0.00002
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.547C>T (p.Arg183Ter) rs145300824 0.00002
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) rs751809765 0.00002
NM_022436.3(ABCG5):c.609C>T (p.Ile203=) rs775594151 0.00002
NM_022436.3(ABCG5):c.697G>A (p.Val233Ile) rs377497967 0.00002
NM_022436.3(ABCG5):c.719G>A (p.Arg240His) rs555312841 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_022436.3(ABCG5):c.861C>T (p.Cys287=) rs530120175 0.00002
NM_022436.3(ABCG5):c.900C>G (p.Phe300Leu) rs748009304 0.00002
NM_022436.3(ABCG5):c.978A>G (p.Glu326=) rs2466006920 0.00002
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met) rs148131742 0.00001
NM_022436.3(ABCG5):c.1118+20G>A rs1456560809 0.00001
NM_022436.3(ABCG5):c.1146T>C (p.Asn382=) rs1014643212 0.00001
NM_022436.3(ABCG5):c.1179T>C (p.Asn393=) rs144893516 0.00001
NM_022436.3(ABCG5):c.1197C>T (p.Phe399=) rs868540610 0.00001
NM_022436.3(ABCG5):c.1217G>A (p.Arg406Gln) rs375364242 0.00001
NM_022436.3(ABCG5):c.1218G>A (p.Arg406=) rs146992652 0.00001
NM_022436.3(ABCG5):c.121C>G (p.Leu41Val) rs1030894919 0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_022436.3(ABCG5):c.126T>C (p.His42=) rs1195869739 0.00001
NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser) rs368994670 0.00001
NM_022436.3(ABCG5):c.1273C>T (p.Gln425Ter) rs1344704197 0.00001
NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) rs779125742 0.00001
NM_022436.3(ABCG5):c.1293G>A (p.Pro431=) rs765168105 0.00001
NM_022436.3(ABCG5):c.1324+8C>T rs1667415958 0.00001
NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser) rs941990198 0.00001
NM_022436.3(ABCG5):c.1330G>A (p.Val444Met) rs375313472 0.00001
NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr) rs778497502 0.00001
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser) rs200378113 0.00001
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) rs1558738919 0.00001
NM_022436.3(ABCG5):c.138C>T (p.Ser46=) rs775574718 0.00001
NM_022436.3(ABCG5):c.1419C>A (p.Pro473=) rs377076958 0.00001
NM_022436.3(ABCG5):c.144-17T>G rs774178310 0.00001
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=) rs886044572 0.00001
NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg) rs1442809103 0.00001
NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys) rs755523464 0.00001
NM_022436.3(ABCG5):c.158C>T (p.Pro53Leu) rs1395568891 0.00001
NM_022436.3(ABCG5):c.1602G>C (p.Val534=) rs1280735521 0.00001
NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg) rs370371131 0.00001
NM_022436.3(ABCG5):c.1763-16A>C rs373162711 0.00001
NM_022436.3(ABCG5):c.1763-1G>A rs1428480606 0.00001
NM_022436.3(ABCG5):c.1775T>C (p.Val592Ala) rs777055543 0.00001
NM_022436.3(ABCG5):c.1799G>A (p.Cys600Tyr) rs779109455 0.00001
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) rs772295351 0.00001
NM_022436.3(ABCG5):c.1A>G (p.Met1Val) rs755998551 0.00001
NM_022436.3(ABCG5):c.207C>T (p.Leu69=) rs866321664 0.00001
NM_022436.3(ABCG5):c.242T>C (p.Ile81Thr) rs1441999437 0.00001
NM_022436.3(ABCG5):c.265+13A>G rs911042257 0.00001
NM_022436.3(ABCG5):c.265+7T>A rs1668376304 0.00001
NM_022436.3(ABCG5):c.266-13T>G rs1303311873 0.00001
NM_022436.3(ABCG5):c.273G>A (p.Gly91=) rs1401843886 0.00001
NM_022436.3(ABCG5):c.281C>G (p.Thr94Arg) rs558993616 0.00001
NM_022436.3(ABCG5):c.2T>C (p.Met1Thr) rs745785626 0.00001
NM_022436.3(ABCG5):c.33G>T (p.Gly11=) rs200471843 0.00001
NM_022436.3(ABCG5):c.342T>C (p.Tyr114=) rs1391862638 0.00001
NM_022436.3(ABCG5):c.343G>A (p.Val115Met) rs765063119 0.00001
NM_022436.3(ABCG5):c.365G>A (p.Arg122Gln) rs555463051 0.00001
NM_022436.3(ABCG5):c.366G>C (p.Arg122=) rs776344516 0.00001
NM_022436.3(ABCG5):c.367G>T (p.Glu123Ter) rs770488364 0.00001
NM_022436.3(ABCG5):c.384C>T (p.Cys128=) rs1239298744 0.00001
NM_022436.3(ABCG5):c.411C>T (p.Thr137=) rs1454183075 0.00001
NM_022436.3(ABCG5):c.502-7C>T rs1667734804 0.00001
NM_022436.3(ABCG5):c.539T>A (p.Val180Glu) rs1310239351 0.00001
NM_022436.3(ABCG5):c.606C>T (p.Ser202=) rs546506696 0.00001
NM_022436.3(ABCG5):c.634+1G>C rs370368811 0.00001
NM_022436.3(ABCG5):c.634A>G (p.Lys212Glu) rs772952717 0.00001
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile) rs1369776473 0.00001
NM_022436.3(ABCG5):c.64C>T (p.Gln22Ter) rs781098379 0.00001
NM_022436.3(ABCG5):c.656C>G (p.Pro219Arg) rs1487073918 0.00001
NM_022436.3(ABCG5):c.686A>C (p.Asn229Thr) rs1055275055 0.00001
NM_022436.3(ABCG5):c.706G>C (p.Val236Leu) rs978195132 0.00001
NM_022436.3(ABCG5):c.718C>T (p.Arg240Cys) rs1018070975 0.00001
NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser) rs1414715703 0.00001
NM_022436.3(ABCG5):c.780T>C (p.Phe260=) rs765847597 0.00001
NM_022436.3(ABCG5):c.805G>A (p.Gly269Arg) rs552803459 0.00001
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) rs539178581 0.00001
NM_022436.3(ABCG5):c.939A>G (p.Glu313=) rs749191249 0.00001
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp) rs142971825 0.00001
NM_022436.3(ABCG5):c.941G>A (p.Arg314Gln) rs544541406 0.00001
NM_022436.3(ABCG5):c.975A>G (p.Ile325Met) rs1296464024 0.00001
NM_022437.3(ABCG8):c.1608G>A (p.Trp536Ter) rs544500542 0.00001
NC_000002.11:g.(?_44001278)_(44209593_?)dup
NC_000002.11:g.(?_44040255)_(44041748_?)del
NC_000002.11:g.(?_44047034)_(44047259_?)del
NC_000002.11:g.(?_44047116)_(44053814_?)del
NC_000002.11:g.(?_44065656)_(44105052_?)del
NM_022436.3(ABCG5):c.*357dup rs886056027
NM_022436.3(ABCG5):c.-118A>C rs55853083
NM_022436.3(ABCG5):c.1008T>C (p.His336=) rs2466006417
NM_022436.3(ABCG5):c.1043T>C (p.Leu348Pro) rs374824368
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys) rs776365033
NM_022436.3(ABCG5):c.1113C>T (p.Leu371=)
NM_022436.3(ABCG5):c.1119-11T>C rs1667437093
NM_022436.3(ABCG5):c.1119-15del rs748930263
NM_022436.3(ABCG5):c.1119-8_1119-5del rs777313666
NM_022436.3(ABCG5):c.1128A>C (p.Thr376=) rs781466225
NM_022436.3(ABCG5):c.1128A>G (p.Thr376=) rs781466225
NM_022436.3(ABCG5):c.1138del (p.Leu379_Val380insTer) rs755809709
NM_022436.3(ABCG5):c.1165C>T (p.Arg389Cys) rs759461453
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met) rs771802286
NM_022436.3(ABCG5):c.1185C>T (p.Ile395=)
NM_022436.3(ABCG5):c.1188G>C (p.Met396Ile) rs2466001850
NM_022436.3(ABCG5):c.1189G>T (p.Gly397Cys)
NM_022436.3(ABCG5):c.1213C>T (p.Leu405=)
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022436.3(ABCG5):c.1228A>G (p.Asn410Asp) rs115590670
NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys) rs771475759
NM_022436.3(ABCG5):c.1262G>C (p.Gly421Ala) rs1667422660
NM_022436.3(ABCG5):c.1311C>G (p.Asn437Lys) rs575266356
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.1323_1324+2del rs780744534
NM_022436.3(ABCG5):c.1324+12C>T
NM_022436.3(ABCG5):c.1324_1324+15del rs754893727
NM_022436.3(ABCG5):c.1325-4C>G rs370895243
NM_022436.3(ABCG5):c.1325-8A>G rs1667331562
NM_022436.3(ABCG5):c.1348G>C (p.Asp450His) rs530616214
NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu) rs141016088
NM_022436.3(ABCG5):c.1381T>C (p.Trp461Arg)
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) rs72542426
NM_022436.3(ABCG5):c.139G>T (p.Val47Phe) rs72542426
NM_022436.3(ABCG5):c.143+13C>A
NM_022436.3(ABCG5):c.143+7C>T rs746799324
NM_022436.3(ABCG5):c.1437C>T (p.Thr479=)
NM_022436.3(ABCG5):c.144-1G>A
NM_022436.3(ABCG5):c.1458C>T (p.Cys486=) rs779676205
NM_022436.3(ABCG5):c.145del (p.His49fs)
NM_022436.3(ABCG5):c.1463+20A>T rs904295231
NM_022436.3(ABCG5):c.1464-15C>A
NM_022436.3(ABCG5):c.1464-16G>A rs2465953838
NM_022436.3(ABCG5):c.1464-17A>G rs2465953862
NM_022436.3(ABCG5):c.1488T>G (p.Val496=)
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp) rs761800517
NM_022436.3(ABCG5):c.1527C>T (p.Pro509=) rs1332813978
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp) rs199984328
NM_022436.3(ABCG5):c.1528del (p.His510fs) rs1404218188
NM_022436.3(ABCG5):c.1528dup (p.His510fs) rs1404218188
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) rs1418170362
NM_022436.3(ABCG5):c.153G>A (p.Val51=) rs1572808737
NM_022436.3(ABCG5):c.1573C>T (p.Gln525Ter) rs2465951776
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys) rs1346546890
NM_022436.3(ABCG5):c.1606C>T (p.Leu536=) rs1341047322
NM_022436.3(ABCG5):c.1620G>A (p.Ala540=) rs145527220
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) rs142109022
NM_022436.3(ABCG5):c.1649+10C>A
NM_022436.3(ABCG5):c.1649+10_1649+12del rs1318579809
NM_022436.3(ABCG5):c.1649+9T>A rs770594428
NM_022436.3(ABCG5):c.1650-14T>C rs2465897416
NM_022436.3(ABCG5):c.1650-2A>T
NM_022436.3(ABCG5):c.1681dup (p.Ile561fs) rs2465896835
NM_022436.3(ABCG5):c.1735G>T (p.Glu579Ter)
NM_022436.3(ABCG5):c.1762+14T>C rs1666688158
NM_022436.3(ABCG5):c.1762+15T>C rs374254631
NM_022436.3(ABCG5):c.1763-18C>T rs766293298
NM_022436.3(ABCG5):c.1770A>T (p.Ser590=)
NM_022436.3(ABCG5):c.1776T>G (p.Val592=) rs2467125975
NM_022436.3(ABCG5):c.177T>C (p.Ser59=) rs1390030417
NM_022436.3(ABCG5):c.1827T>G (p.Ile609Met)
NM_022436.3(ABCG5):c.1838G>A (p.Cys613Tyr) rs1572735428
NM_022436.3(ABCG5):c.1846G>A (p.Ala616Thr)
NM_022436.3(ABCG5):c.1878T>C (p.Ile626=) rs768890956
NM_022436.3(ABCG5):c.187C>T (p.Gln63Ter)
NM_022436.3(ABCG5):c.1890del (p.Phe630fs) rs769429015
NM_022436.3(ABCG5):c.1913G>A (p.Gly638Glu) rs1458239200
NM_022436.3(ABCG5):c.1953G>A (p.Arg651=)
NM_022436.3(ABCG5):c.195C>G (p.Thr65=) rs2466141086
NM_022436.3(ABCG5):c.225C>T (p.Tyr75=) rs745310708
NM_022436.3(ABCG5):c.237G>A (p.Gly79=) rs1286966736
NM_022436.3(ABCG5):c.265+16A>T rs2466139750
NM_022436.3(ABCG5):c.266-2A>G
NM_022436.3(ABCG5):c.266-5C>G rs1667986877
NM_022436.3(ABCG5):c.266-9G>T rs769024148
NM_022436.3(ABCG5):c.274A>G (p.Lys92Glu) rs2466095732
NM_022436.3(ABCG5):c.301G>T (p.Gly101Trp) rs1010631695
NM_022436.3(ABCG5):c.331G>T (p.Gly111Trp) rs1490854065
NM_022436.3(ABCG5):c.336G>A (p.Glu112=) rs371387251
NM_022436.3(ABCG5):c.357G>A (p.Ala119=) rs2466093981
NM_022436.3(ABCG5):c.402+13C>T
NM_022436.3(ABCG5):c.402+18A>T rs556260188
NM_022436.3(ABCG5):c.402+20C>A
NM_022436.3(ABCG5):c.402+3G>T rs2466093086
NM_022436.3(ABCG5):c.402+6CG[3]
NM_022436.3(ABCG5):c.403-13G>A rs2466091851
NM_022436.3(ABCG5):c.403-2A>T
NM_022436.3(ABCG5):c.405C>T (p.Ser135=)
NM_022436.3(ABCG5):c.421A>C (p.Ser141Arg) rs2466091244
NM_022436.3(ABCG5):c.429C>T (p.Thr143=) rs1667964581
NM_022436.3(ABCG5):c.436G>T (p.Glu146Ter)
NM_022436.3(ABCG5):c.43C>A (p.Leu15Ile) rs372312214
NM_022436.3(ABCG5):c.43C>G (p.Leu15Val) rs372312214
NM_022436.3(ABCG5):c.43C>T (p.Leu15Phe) rs372312214
NM_022436.3(ABCG5):c.451A>C (p.Thr151Pro) rs1667962481
NM_022436.3(ABCG5):c.452C>G (p.Thr151Ser) rs1028572835
NM_022436.3(ABCG5):c.459G>A (p.Leu153=) rs2466090434
NM_022436.3(ABCG5):c.45C>G (p.Leu15=) rs932531973
NM_022436.3(ABCG5):c.501+11C>T rs530079060
NM_022436.3(ABCG5):c.501+11dup rs200655485
NM_022436.3(ABCG5):c.501+14C>G rs747305034
NM_022436.3(ABCG5):c.501+16C>T
NM_022436.3(ABCG5):c.501+16del rs200655485
NM_022436.3(ABCG5):c.501+1G>A
NM_022436.3(ABCG5):c.531G>C (p.Leu177=) rs1341437135
NM_022436.3(ABCG5):c.537T>A (p.His179Gln) rs1303264901
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) rs762951266
NM_022436.3(ABCG5):c.575del (p.Gly192fs) rs762031825
NM_022436.3(ABCG5):c.595C>T (p.Arg199Cys) rs376129056
NM_022436.3(ABCG5):c.598C>T (p.Arg200Trp) rs986330996
NM_022436.3(ABCG5):c.600G>A (p.Arg200=) rs1239066687
NM_022436.3(ABCG5):c.634+19T>C
NM_022436.3(ABCG5):c.634+1G>A rs370368811
NM_022436.3(ABCG5):c.634+6T>G rs1397305308
NM_022436.3(ABCG5):c.635-153_1588del
NM_022436.3(ABCG5):c.635-15C>T
NM_022436.3(ABCG5):c.651T>C (p.Asp217=) rs2466035530
NM_022436.3(ABCG5):c.676A>G (p.Met226Val) rs747516136
NM_022436.3(ABCG5):c.711A>G (p.Glu237=) rs914996978
NM_022436.3(ABCG5):c.719G>T (p.Arg240Leu) rs555312841
NM_022436.3(ABCG5):c.720C>T (p.Arg240=) rs750382866
NM_022436.3(ABCG5):c.735G>T (p.Val245=) rs1419427897
NM_022436.3(ABCG5):c.736G>A (p.Val246Ile) rs2466033818
NM_022436.3(ABCG5):c.75G>A (p.Leu25=) rs2466151492
NM_022436.3(ABCG5):c.761C>T (p.Ser254Phe) rs142019608
NM_022436.3(ABCG5):c.774+13A>T rs1667602661
NM_022436.3(ABCG5):c.775-16T>A rs1667505539
NM_022436.3(ABCG5):c.775-18C>G rs200416765
NM_022436.3(ABCG5):c.775-18C>T rs200416765
NM_022436.3(ABCG5):c.803T>A (p.Phe268Tyr) rs770103215
NM_022436.3(ABCG5):c.82G>T (p.Ala28Ser) rs980495592
NM_022436.3(ABCG5):c.832G>A (p.Ala278Thr) rs1479033652
NM_022436.3(ABCG5):c.862G>T (p.Gly288Cys) rs139264483
NM_022436.3(ABCG5):c.866A>G (p.Tyr289Cys) rs759892269
NM_022436.3(ABCG5):c.901T>C (p.Tyr301His) rs778837844
NM_022436.3(ABCG5):c.904+17C>T
NM_022436.3(ABCG5):c.904+1G>A
NM_022436.3(ABCG5):c.904+3_904+6del rs1167123880
NM_022436.3(ABCG5):c.905-13G>C
NM_022436.3(ABCG5):c.905-20C>A
NM_022436.3(ABCG5):c.905-3dup rs142037828
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) rs143740796
NM_022436.3(ABCG5):c.914C>T (p.Thr305Met) rs143740796
NM_022436.3(ABCG5):c.918A>C (p.Ser306=) rs2466007891
NM_022436.3(ABCG5):c.922G>C (p.Asp308His) rs767648807
NM_022436.3(ABCG5):c.933C>T (p.Ser311=) rs774304589
NM_022436.3(ABCG5):c.962G>A (p.Arg321Lys) rs1348348567
NM_022436.3(ABCG5):c.963A>C (p.Arg321Ser) rs1667456050
NM_022436.3(ABCG5):c.978del (p.Glu326fs) rs869025350
NM_022436.3(ABCG5):c.988A>G (p.Lys330Glu) rs2466006754
NM_022436.3(ABCG5):c.98C>T (p.Pro33Leu) rs778605187
NM_022437.3(ABCG8):c.*523_*531del rs886056039
NM_022437.3(ABCG8):c.*96del rs4148229
NM_022437.3(ABCG8):c.1226A>C (p.Asn409Thr)
NM_022437.3(ABCG8):c.1412-9_1412-8insT rs138296512
NM_022437.3(ABCG8):c.2011C>T (p.Gln671Ter)
NM_022437.3(ABCG8):c.647_657dup (p.Arg220fs) rs1456237152
NM_022437.3(ABCG8):c.965-1G>A rs957176669

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