ClinVar Miner

List of variants in gene combination ABCG5, DYNC2LI1 reported as uncertain significance for Sitosterolemia

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Total variants: 96
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HGVS dbSNP gnomAD frequency
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00107
NM_022436.3(ABCG5):c.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00028
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.1163C>T (p.Thr388Met) rs149418765 0.00015
NM_022436.3(ABCG5):c.905-3T>C rs754306032 0.00011
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_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.1856G>C (p.Arg619Thr) rs374012053 0.00006
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val) rs756376137 0.00005
NM_022436.3(ABCG5):c.1216C>T (p.Arg406Trp) rs752962014 0.00005
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.1209C>T (p.Phe403=) rs765896139 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.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.827C>T (p.Thr276Met) rs368800131 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.599G>A (p.Arg200Gln) rs751809765 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.900C>G (p.Phe300Leu) rs748009304 0.00002
NM_022436.3(ABCG5):c.1049C>T (p.Thr350Met) rs148131742 0.00001
NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser) rs368994670 0.00001
NM_022436.3(ABCG5):c.1285G>A (p.Ala429Thr) rs779125742 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.1452T>G (p.Ser484Arg) rs1442809103 0.00001
NM_022436.3(ABCG5):c.1460A>G (p.Tyr487Cys) rs755523464 0.00001
NM_022436.3(ABCG5):c.1711T>C (p.Cys571Arg) rs370371131 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.539T>A (p.Val180Glu) rs1310239351 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.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.805G>A (p.Gly269Arg) rs552803459 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_022436.3(ABCG5):c.*357dup rs886056027
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.1165C>T (p.Arg389Cys) rs759461453
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met) rs771802286
NM_022436.3(ABCG5):c.1188G>C (p.Met396Ile) rs2466001850
NM_022436.3(ABCG5):c.1189G>T (p.Gly397Cys)
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.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.1514C>A (p.Ala505Asp) rs761800517
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) rs1418170362
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys) rs1346546890
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) rs142109022
NM_022436.3(ABCG5):c.1650-2A>T
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.1913G>A (p.Gly638Glu) rs1458239200
NM_022436.3(ABCG5):c.537T>A (p.His179Gln) rs1303264901
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.634+6T>G rs1397305308
NM_022436.3(ABCG5):c.676A>G (p.Met226Val) rs747516136
NM_022436.3(ABCG5):c.719G>T (p.Arg240Leu) rs555312841
NM_022436.3(ABCG5):c.736G>A (p.Val246Ile) rs2466033818
NM_022436.3(ABCG5):c.761C>T (p.Ser254Phe) rs142019608
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+3_904+6del rs1167123880
NM_022436.3(ABCG5):c.905-3dup rs142037828
NM_022436.3(ABCG5):c.914C>T (p.Thr305Met) rs143740796
NM_022436.3(ABCG5):c.922G>C (p.Asp308His) rs767648807
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.988A>G (p.Lys330Glu) rs2466006754

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