ClinVar Miner

List of variants in gene combination ABCG5, DYNC2LI1 reported as likely benign for Sitosterolemia

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Gene type:
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Total variants: 105
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173 0.21159
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.1251G>A (p.Gln417=) rs146801512 0.00063
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) rs147061424 0.00060
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_022436.3(ABCG5):c.1118+17T>C rs183257361 0.00025
NM_022436.3(ABCG5):c.1118+13C>G rs371609600 0.00021
NM_022436.3(ABCG5):c.775-7T>A rs201469377 0.00016
NM_022436.3(ABCG5):c.775-17G>A rs368001054 0.00010
NM_022436.3(ABCG5):c.1164G>A (p.Thr388=) rs145755348 0.00009
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.1180C>T (p.Leu394=) rs771802286 0.00005
NM_022436.3(ABCG5):c.1758T>C (p.Thr586=) rs141053836 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.1569C>T (p.Ile523=) rs376969021 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.1215G>A (p.Leu405=) rs758152766 0.00003
NM_022436.3(ABCG5):c.1770A>C (p.Ser590=) rs1280347803 0.00003
NM_022436.3(ABCG5):c.543A>C (p.Ala181=) rs767751451 0.00003
NM_022436.3(ABCG5):c.774+17G>A rs569579029 0.00003
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) rs373182673 0.00003
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.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.609C>T (p.Ile203=) rs775594151 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.978A>G (p.Glu326=) rs2466006920 0.00002
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.1218G>A (p.Arg406=) rs146992652 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.1366G>A (p.Gly456Ser) rs200378113 0.00001
NM_022436.3(ABCG5):c.1419C>A (p.Pro473=) rs377076958 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.1763-16A>C rs373162711 0.00001
NM_022436.3(ABCG5):c.502-7C>T rs1667734804 0.00001
NM_022436.3(ABCG5):c.606C>T (p.Ser202=) rs546506696 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.939A>G (p.Glu313=) rs749191249 0.00001
NM_022436.3(ABCG5):c.1008T>C (p.His336=) rs2466006417
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.1185C>T (p.Ile395=)
NM_022436.3(ABCG5):c.1213C>T (p.Leu405=)
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.1324+12C>T
NM_022436.3(ABCG5):c.1325-4C>G rs370895243
NM_022436.3(ABCG5):c.1325-8A>G rs1667331562
NM_022436.3(ABCG5):c.1437C>T (p.Thr479=)
NM_022436.3(ABCG5):c.1458C>T (p.Cys486=) rs779676205
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.1527C>T (p.Pro509=) rs1332813978
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.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.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.1878T>C (p.Ile626=) rs768890956
NM_022436.3(ABCG5):c.1953G>A (p.Arg651=)
NM_022436.3(ABCG5):c.531G>C (p.Leu177=) rs1341437135
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) rs762951266
NM_022436.3(ABCG5):c.600G>A (p.Arg200=) rs1239066687
NM_022436.3(ABCG5):c.634+19T>C
NM_022436.3(ABCG5):c.635-15C>T
NM_022436.3(ABCG5):c.651T>C (p.Asp217=) rs2466035530
NM_022436.3(ABCG5):c.711A>G (p.Glu237=) rs914996978
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.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.904+17C>T
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.918A>C (p.Ser306=) rs2466007891
NM_022436.3(ABCG5):c.933C>T (p.Ser311=) rs774304589

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