ClinVar Miner

List of variants in gene combination ABCG5, DYNC2LI1 reported as uncertain significance by Eurofins NTD LLC (GA)

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Gene type:
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Total variants: 46
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HGVS dbSNP gnomAD frequency
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.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.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.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.1358G>C (p.Ser453Thr) rs778497502 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.780T>C (p.Phe260=) rs765847597 0.00001
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) rs539178581 0.00001
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.1255C>T (p.Arg419Cys) rs771475759
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.1354G>C (p.Glu452Gln) rs1431727008
NM_022436.3(ABCG5):c.1458C>T (p.Cys486=) rs779676205
NM_022436.3(ABCG5):c.1528C>G (p.His510Asp) rs199984328
NM_022436.3(ABCG5):c.1621G>T (p.Gly541Trp) rs142109022
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.1950C>T (p.Ser650=) rs1184078765
NM_022436.3(ABCG5):c.502-11_502-10del rs1293826250
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) rs762951266
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.751C>G (p.Gln251Glu) rs140111105
NM_022436.3(ABCG5):c.850T>C (p.Phe284Leu) rs1558746195

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