ClinVar Miner

List of variants in gene ABCG5, DYNC2LI1 studied for not provided

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Gene type:
ClinVar version:
Total variants: 150
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.*380T>G rs2278356 0.42073
NM_022436.3(ABCG5):c.1324+164C>T rs4148187 0.36244
NM_022436.3(ABCG5):c.502-192C>T rs4557032 0.33123
NM_016008.4(DYNC2LI1):c.994-44A>G rs4952683 0.26075
NM_016008.4(DYNC2LI1):c.994-155A>G rs4953018 0.24320
NM_022436.3(ABCG5):c.*622C>T rs4148195 0.24225
NM_016008.4(DYNC2LI1):c.*16T>C rs10186552 0.23893
NM_022436.3(ABCG5):c.*416G>A rs2278357 0.21979
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
NM_016008.4(DYNC2LI1):c.*7T>C rs8302 0.19727
NM_022436.3(ABCG5):c.*522G>A rs77105521 0.18100
NM_022436.3(ABCG5):c.502-133G>A rs17031687 0.08020
NM_022436.3(ABCG5):c.904+138T>A rs72873579 0.04839
NM_022436.3(ABCG5):c.775-259G>A rs79964831 0.04187
NM_022436.3(ABCG5):c.1650-166A>C rs74424483 0.02308
NM_016008.4(DYNC2LI1):c.*141T>G rs17031643 0.02255
NM_022436.3(ABCG5):c.1763-210T>C rs17031655 0.02252
NM_022436.3(ABCG5):c.1763-114C>G rs17031651 0.02250
NM_022436.3(ABCG5):c.1762+337G>A rs114098567 0.02248
NM_022436.3(ABCG5):c.1463+287A>C rs116594700 0.01899
NM_022436.3(ABCG5):c.1464-108A>T rs56400511 0.01800
NM_022436.3(ABCG5):c.785A>G (p.Lys262Arg) rs78070897 0.01647
NM_022436.3(ABCG5):c.1324+73A>T rs72796715 0.01550
NM_022436.3(ABCG5):c.1324+242G>C rs77405664 0.01466
NM_022436.3(ABCG5):c.1550C>G (p.Thr517Ser) rs17031672 0.01119
NM_022436.3(ABCG5):c.774+276C>G rs72873586 0.01099
NM_022436.3(ABCG5):c.*72G>A rs77265083 0.00939
NM_022436.3(ABCG5):c.1649+142G>A rs116468336 0.00905
NM_022436.3(ABCG5):c.774+166T>C rs112153830 0.00901
NM_022436.3(ABCG5):c.1119-30A>G rs76519976 0.00786
NM_022436.3(ABCG5):c.775-10G>T rs114549158 0.00688
NM_022436.3(ABCG5):c.774+73T>A rs143173715 0.00604
NM_022436.3(ABCG5):c.774+198C>A rs80291642 0.00506
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.1284C>T (p.Gly428=) rs143972075 0.00198
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00189
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00127
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00109
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) rs147061424 0.00065
NM_022436.3(ABCG5):c.1251G>A (p.Gln417=) rs146801512 0.00063
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.1365C>T (p.Asp455=) rs141016088 0.00038
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
NM_022436.3(ABCG5):c.634+3A>G rs374755597 0.00026
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_022436.3(ABCG5):c.897C>T (p.Asp299=) rs373237261 0.00020
NM_022436.3(ABCG5):c.1163C>T (p.Thr388Met) rs149418765 0.00015
NM_022436.3(ABCG5):c.1336C>T (p.Arg446Ter) rs199689137 0.00011
NM_022436.3(ABCG5):c.1166G>A (p.Arg389His) rs119480069 0.00009
NM_022436.3(ABCG5):c.1733A>G (p.Asn578Ser) rs146534033 0.00009
NM_022436.3(ABCG5):c.758G>A (p.Arg253His) rs148186696 0.00007
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=) rs767584159 0.00005
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.1570G>A (p.Val524Ile) rs200839584 0.00004
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_022436.3(ABCG5):c.915G>A (p.Thr305=) rs773296588 0.00004
NM_022436.3(ABCG5):c.1320T>A (p.Asn440Lys) rs150002815 0.00003
NM_022436.3(ABCG5):c.1770A>C (p.Ser590=) rs1280347803 0.00003
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) rs373182673 0.00003
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.599G>A (p.Arg200Gln) rs751809765 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_022436.3(ABCG5):c.1059G>A (p.Met353Ile) rs1558743627 0.00001
NM_022436.3(ABCG5):c.1222C>T (p.Arg408Ter) rs119479065 0.00001
NM_022436.3(ABCG5):c.1358G>C (p.Ser453Thr) rs778497502 0.00001
NM_022436.3(ABCG5):c.1374C>G (p.Tyr458Ter) rs1558738919 0.00001
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=) rs886044572 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.634A>G (p.Lys212Glu) rs772952717 0.00001
NM_022436.3(ABCG5):c.692T>C (p.Ile231Thr) rs778172526 0.00001
NM_022436.3(ABCG5):c.728G>A (p.Arg243Gln) rs774178234 0.00001
NM_022436.3(ABCG5):c.780T>C (p.Phe260=) rs765847597 0.00001
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) rs539178581 0.00001
NM_022436.3(ABCG5):c.940C>T (p.Arg314Trp) rs142971825 0.00001
NM_016008.4(DYNC2LI1):c.1016G>A (p.Ser339Asn)
NM_016008.4(DYNC2LI1):c.1041C>A (p.Ile347=) rs374650741
NM_016008.4(DYNC2LI1):c.1042G>C (p.Glu348Gln) rs41281457
NM_016008.4(DYNC2LI1):c.994-15A>G
NM_016008.4(DYNC2LI1):c.994-17A>G
NM_016008.4(DYNC2LI1):c.994-19A>C
NM_022436.3(ABCG5):c.*285G>C rs114868704
NM_022436.3(ABCG5):c.1068C>A (p.Phe356Leu) rs745606275
NM_022436.3(ABCG5):c.1108G>A (p.Val370Ile) rs1420838825
NM_022436.3(ABCG5):c.1137G>C (p.Leu379Phe)
NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val) rs897344189
NM_022436.3(ABCG5):c.1228A>C (p.Asn410His) rs115590670
NM_022436.3(ABCG5):c.1255C>T (p.Arg419Cys) rs771475759
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.1324+45C>T rs76576389
NM_022436.3(ABCG5):c.1325-1G>T rs768019354
NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)
NM_022436.3(ABCG5):c.1340C>T (p.Ala447Val)
NM_022436.3(ABCG5):c.1354G>C (p.Glu452Gln) rs1431727008
NM_022436.3(ABCG5):c.1432G>A (p.Ala478Thr)
NM_022436.3(ABCG5):c.1458C>T (p.Cys486=) rs779676205
NM_022436.3(ABCG5):c.1463+141G>A rs55680582
NM_022436.3(ABCG5):c.1463+198C>T rs186297840
NM_022436.3(ABCG5):c.1463+317_1463+318insC rs57240390
NM_022436.3(ABCG5):c.1463+318G>T rs749560093
NM_022436.3(ABCG5):c.1463+318del rs55983843
NM_022436.3(ABCG5):c.1463+318dup rs55983843
NM_022436.3(ABCG5):c.1463+319C>G rs7423086
NM_022436.3(ABCG5):c.1463+319_1463+320insGG rs397781046
NM_022436.3(ABCG5):c.1463+320del rs199920905
NM_022436.3(ABCG5):c.1463+321T>G rs1362134031
NM_022436.3(ABCG5):c.1463+64G>A rs4073237
NM_022436.3(ABCG5):c.1464-1G>C
NM_022436.3(ABCG5):c.1464-219G>A rs17031675
NM_022436.3(ABCG5):c.1464-291G>A rs4148189
NM_022436.3(ABCG5):c.1492C>T (p.Arg498Ter) rs760929179
NM_022436.3(ABCG5):c.1501T>C (p.Tyr501His)
NM_022436.3(ABCG5):c.1516C>T (p.Leu506Phe) rs1241886927
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp) rs199984328
NM_022436.3(ABCG5):c.1552C>T (p.Leu518Phe)
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) rs142109022
NM_022436.3(ABCG5):c.1629_1638dup (p.Gly547fs) rs2104783876
NM_022436.3(ABCG5):c.1631T>A (p.Val544Asp) rs1667078197
NM_022436.3(ABCG5):c.1672C>G (p.Pro558Ala)
NM_022436.3(ABCG5):c.1682TCA[3] (p.Ile562_Ser563insIle) rs1439860280
NM_022436.3(ABCG5):c.1707A>C (p.Lys569Asn) rs776001498
NM_022436.3(ABCG5):c.1786A>G (p.Thr596Ala)
NM_022436.3(ABCG5):c.1792C>A (p.Pro598Thr)
NM_022436.3(ABCG5):c.1871T>G (p.Phe624Cys)
NM_022436.3(ABCG5):c.1886C>G (p.Ser629Ter) rs772295351
NM_022436.3(ABCG5):c.1890del (p.Phe630fs) rs769429015
NM_022436.3(ABCG5):c.1916T>C (p.Ile639Thr)
NM_022436.3(ABCG5):c.1950C>T (p.Ser650=) rs1184078765
NM_022436.3(ABCG5):c.502-11_502-10del rs1293826250
NM_022436.3(ABCG5):c.521A>G (p.Glu174Gly)
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>G (p.Arg200Gly) rs986330996
NM_022436.3(ABCG5):c.634+131C>T rs56266464
NM_022436.3(ABCG5):c.634+1G>C rs370368811
NM_022436.3(ABCG5):c.697G>A (p.Val233Ile)
NM_022436.3(ABCG5):c.751C>G (p.Gln251Glu) rs140111105
NM_022436.3(ABCG5):c.774+1G>T rs2104830594
NM_022436.3(ABCG5):c.774+215del rs113184872
NM_022436.3(ABCG5):c.774+215dup rs113184872
NM_022436.3(ABCG5):c.775-45G>T rs111587587
NM_022436.3(ABCG5):c.775-46C>T rs4148186
NM_022436.3(ABCG5):c.850T>C (p.Phe284Leu) rs1558746195
NM_022436.3(ABCG5):c.905-1G>C

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