ClinVar Miner

List of variants in gene combination ABCG5, DYNC2LI1 reported as uncertain significance by Ambry Genetics

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Gene type:
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Total variants: 151
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HGVS dbSNP gnomAD frequency
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.1870T>C (p.Phe624Leu) rs150401285 0.00047
NM_022436.3(ABCG5):c.1171C>T (p.Leu391Phe) rs148997255 0.00027
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.758G>A (p.Arg253His) rs148186696 0.00007
NM_022436.3(ABCG5):c.1856G>C (p.Arg619Thr) rs374012053 0.00006
NM_022436.3(ABCG5):c.658A>G (p.Thr220Ala) rs781732933 0.00004
NM_022436.3(ABCG5):c.1258G>A (p.Val420Ile) rs747481748 0.00003
NM_022436.3(ABCG5):c.1121G>C (p.Arg374Thr) rs770254073 0.00002
NM_022436.3(ABCG5):c.827C>T (p.Thr276Met) rs368800131 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.1196T>G (p.Phe399Cys) rs1369215333 0.00001
NM_022436.3(ABCG5):c.1366G>A (p.Gly456Ser) rs200378113 0.00001
NM_022436.3(ABCG5):c.538G>A (p.Val180Met) rs761153980 0.00001
NM_022436.3(ABCG5):c.642G>A (p.Met214Ile) rs1369776473 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_016008.4(DYNC2LI1):c.1016G>A (p.Ser339Asn)
NM_016008.4(DYNC2LI1):c.1040T>A (p.Ile347Asn)
NM_016008.4(DYNC2LI1):c.1042G>A (p.Glu348Lys)
NM_022436.3(ABCG5):c.1001T>C (p.Ile334Thr)
NM_022436.3(ABCG5):c.1006C>T (p.His336Tyr)
NM_022436.3(ABCG5):c.1007A>G (p.His336Arg)
NM_022436.3(ABCG5):c.1015T>G (p.Leu339Val)
NM_022436.3(ABCG5):c.1019A>G (p.Lys340Arg)
NM_022436.3(ABCG5):c.1025T>C (p.Ile342Thr)
NM_022436.3(ABCG5):c.1039C>T (p.His347Tyr)
NM_022436.3(ABCG5):c.1043T>G (p.Leu348Arg)
NM_022436.3(ABCG5):c.1049C>A (p.Thr350Lys)
NM_022436.3(ABCG5):c.1049C>G (p.Thr350Arg)
NM_022436.3(ABCG5):c.1068C>G (p.Phe356Leu)
NM_022436.3(ABCG5):c.1079A>G (p.Asp360Gly)
NM_022436.3(ABCG5):c.1082C>G (p.Ser361Cys) rs776365033
NM_022436.3(ABCG5):c.1117A>T (p.Arg373Trp)
NM_022436.3(ABCG5):c.1137G>C (p.Leu379Phe)
NM_022436.3(ABCG5):c.1153G>A (p.Ala385Thr)
NM_022436.3(ABCG5):c.1154C>G (p.Ala385Gly)
NM_022436.3(ABCG5):c.1180C>A (p.Leu394Met)
NM_022436.3(ABCG5):c.1183A>G (p.Ile395Val) rs897344189
NM_022436.3(ABCG5):c.1186A>T (p.Met396Leu)
NM_022436.3(ABCG5):c.1195T>C (p.Phe399Leu)
NM_022436.3(ABCG5):c.1210G>A (p.Val404Ile)
NM_022436.3(ABCG5):c.1234C>G (p.Leu412Val)
NM_022436.3(ABCG5):c.1248C>G (p.Ile416Met)
NM_022436.3(ABCG5):c.1250A>G (p.Gln417Arg)
NM_022436.3(ABCG5):c.1252G>A (p.Asp418Asn)
NM_022436.3(ABCG5):c.1255C>G (p.Arg419Gly)
NM_022436.3(ABCG5):c.1259T>G (p.Val420Gly)
NM_022436.3(ABCG5):c.1271A>C (p.Tyr424Ser)
NM_022436.3(ABCG5):c.1282G>A (p.Gly428Ser)
NM_022436.3(ABCG5):c.1289C>T (p.Thr430Ile)
NM_022436.3(ABCG5):c.1303A>G (p.Met435Val)
NM_022436.3(ABCG5):c.1304T>C (p.Met435Thr)
NM_022436.3(ABCG5):c.1327C>T (p.Pro443Ser)
NM_022436.3(ABCG5):c.1333C>G (p.Leu445Val)
NM_022436.3(ABCG5):c.1354G>C (p.Glu452Gln) rs1431727008
NM_022436.3(ABCG5):c.1360C>A (p.Gln454Lys)
NM_022436.3(ABCG5):c.1365C>A (p.Asp455Glu)
NM_022436.3(ABCG5):c.1381T>C (p.Trp461Arg)
NM_022436.3(ABCG5):c.1433C>A (p.Ala478Asp)
NM_022436.3(ABCG5):c.1451G>C (p.Ser484Thr)
NM_022436.3(ABCG5):c.1452T>G (p.Ser484Arg)
NM_022436.3(ABCG5):c.1472G>A (p.Gly491Asp)
NM_022436.3(ABCG5):c.1492C>G (p.Arg498Gly)
NM_022436.3(ABCG5):c.1501T>C (p.Tyr501His)
NM_022436.3(ABCG5):c.1514C>A (p.Ala505Asp)
NM_022436.3(ABCG5):c.1522G>A (p.Ala508Thr)
NM_022436.3(ABCG5):c.1523C>T (p.Ala508Val)
NM_022436.3(ABCG5):c.1537G>C (p.Gly513Arg) rs1418170362
NM_022436.3(ABCG5):c.1549A>C (p.Thr517Pro)
NM_022436.3(ABCG5):c.1586T>C (p.Ile529Thr)
NM_022436.3(ABCG5):c.1593C>A (p.Asn531Lys)
NM_022436.3(ABCG5):c.1596T>A (p.Ser532Arg)
NM_022436.3(ABCG5):c.1603G>A (p.Ala535Thr)
NM_022436.3(ABCG5):c.1616T>C (p.Ile539Thr)
NM_022436.3(ABCG5):c.1619C>T (p.Ala540Val)
NM_022436.3(ABCG5):c.1624G>C (p.Val542Leu)
NM_022436.3(ABCG5):c.1628T>C (p.Leu543Pro)
NM_022436.3(ABCG5):c.1654A>C (p.Ile552Leu)
NM_022436.3(ABCG5):c.1655T>C (p.Ile552Thr)
NM_022436.3(ABCG5):c.1667C>T (p.Pro556Leu)
NM_022436.3(ABCG5):c.1672C>G (p.Pro558Ala)
NM_022436.3(ABCG5):c.1690T>C (p.Tyr564His)
NM_022436.3(ABCG5):c.1707A>C (p.Lys569Asn) rs776001498
NM_022436.3(ABCG5):c.1720A>T (p.Ile574Phe)
NM_022436.3(ABCG5):c.1727T>C (p.Val576Ala)
NM_022436.3(ABCG5):c.1763G>A (p.Gly588Asp)
NM_022436.3(ABCG5):c.1771A>G (p.Asn591Asp)
NM_022436.3(ABCG5):c.1792C>A (p.Pro598Thr)
NM_022436.3(ABCG5):c.1798T>G (p.Cys600Gly)
NM_022436.3(ABCG5):c.1825A>G (p.Ile609Val)
NM_022436.3(ABCG5):c.1826T>C (p.Ile609Thr)
NM_022436.3(ABCG5):c.1828G>C (p.Glu610Gln)
NM_022436.3(ABCG5):c.1835C>A (p.Thr612Asn)
NM_022436.3(ABCG5):c.1840C>A (p.Pro614Thr)
NM_022436.3(ABCG5):c.1843G>T (p.Gly615Cys)
NM_022436.3(ABCG5):c.1853C>T (p.Ser618Phe)
NM_022436.3(ABCG5):c.1874T>C (p.Leu625Pro)
NM_022436.3(ABCG5):c.1888T>A (p.Phe630Ile)
NM_022436.3(ABCG5):c.1891A>T (p.Ile631Phe)
NM_022436.3(ABCG5):c.1898C>G (p.Ala633Gly)
NM_022436.3(ABCG5):c.1904T>G (p.Val635Gly)
NM_022436.3(ABCG5):c.1933A>G (p.Arg645Gly)
NM_022436.3(ABCG5):c.1942C>T (p.Leu648Phe)
NM_022436.3(ABCG5):c.1943T>G (p.Leu648Arg)
NM_022436.3(ABCG5):c.1945A>C (p.Ile649Leu)
NM_022436.3(ABCG5):c.1952G>A (p.Arg651Lys)
NM_022436.3(ABCG5):c.509C>A (p.Ala170Asp)
NM_022436.3(ABCG5):c.523C>A (p.Leu175Met)
NM_022436.3(ABCG5):c.527G>A (p.Ser176Asn)
NM_022436.3(ABCG5):c.529C>G (p.Leu177Val)
NM_022436.3(ABCG5):c.551T>C (p.Leu184Pro)
NM_022436.3(ABCG5):c.557G>A (p.Gly186Asp)
NM_022436.3(ABCG5):c.560A>G (p.Asn187Ser)
NM_022436.3(ABCG5):c.571G>C (p.Gly191Arg)
NM_022436.3(ABCG5):c.596G>A (p.Arg199His)
NM_022436.3(ABCG5):c.613G>A (p.Ala205Thr)
NM_022436.3(ABCG5):c.629A>G (p.Asp210Gly)
NM_022436.3(ABCG5):c.632C>G (p.Pro211Arg)
NM_022436.3(ABCG5):c.676A>G (p.Met226Val)
NM_022436.3(ABCG5):c.680C>G (p.Thr227Ser)
NM_022436.3(ABCG5):c.683C>A (p.Ala228Asp)
NM_022436.3(ABCG5):c.686A>C (p.Asn229Thr)
NM_022436.3(ABCG5):c.697G>T (p.Val233Phe)
NM_022436.3(ABCG5):c.719G>A (p.Arg240His)
NM_022436.3(ABCG5):c.723G>T (p.Arg241Ser)
NM_022436.3(ABCG5):c.734T>G (p.Val245Gly)
NM_022436.3(ABCG5):c.745A>G (p.Ile249Val)
NM_022436.3(ABCG5):c.754C>T (p.Pro252Ser)
NM_022436.3(ABCG5):c.757C>T (p.Arg253Cys)
NM_022436.3(ABCG5):c.776T>A (p.Leu259His)
NM_022436.3(ABCG5):c.782A>T (p.Asp261Val)
NM_022436.3(ABCG5):c.786A>C (p.Lys262Asn)
NM_022436.3(ABCG5):c.788T>G (p.Ile263Ser)
NM_022436.3(ABCG5):c.791C>T (p.Ala264Val)
NM_022436.3(ABCG5):c.805G>C (p.Gly269Arg)
NM_022436.3(ABCG5):c.833C>A (p.Ala278Glu)
NM_022436.3(ABCG5):c.881A>G (p.His294Arg)
NM_022436.3(ABCG5):c.890C>T (p.Pro297Leu)
NM_022436.3(ABCG5):c.893T>C (p.Phe298Ser)
NM_022436.3(ABCG5):c.902A>G (p.Tyr301Cys)
NM_022436.3(ABCG5):c.905-1G>C
NM_022436.3(ABCG5):c.905-5T>G
NM_022436.3(ABCG5):c.914C>A (p.Thr305Lys)
NM_022436.3(ABCG5):c.920T>C (p.Val307Ala)
NM_022436.3(ABCG5):c.932G>C (p.Ser311Thr)
NM_022436.3(ABCG5):c.970A>G (p.Met324Val)

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