ClinVar Miner

List of variants in gene combination ASTN2, TRIM32 reported as likely benign for Bardet-Biedl syndrome

Included ClinVar conditions (45):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 228
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.*692C>G rs116058338 0.00526
NM_012210.4(TRIM32):c.558G>C (p.Gln186His) rs117599771 0.00183
NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys) rs3747835 0.00113
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg) rs3747834 0.00017
NM_012210.4(TRIM32):c.330A>G (p.Gln110=) rs770015462 0.00011
NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser) rs200997003 0.00011
NM_012210.4(TRIM32):c.1040A>T (p.Glu347Val) rs749760133 0.00009
NM_012210.4(TRIM32):c.366C>G (p.Pro122=) rs137947083 0.00009
NM_012210.4(TRIM32):c.27G>C (p.Leu9=) rs201891227 0.00008
NM_012210.4(TRIM32):c.238C>T (p.Leu80=) rs760820148 0.00007
NM_012210.4(TRIM32):c.1416A>G (p.Pro472=) rs374136376 0.00006
NM_012210.4(TRIM32):c.1662T>C (p.Ser554=) rs372044621 0.00006
NM_012210.4(TRIM32):c.987G>A (p.Pro329=) rs760513760 0.00006
NM_012210.4(TRIM32):c.1275T>C (p.Asp425=) rs150813870 0.00005
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_012210.4(TRIM32):c.693A>C (p.Ala231=) rs368455215 0.00005
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=) rs776448126 0.00004
NM_012210.4(TRIM32):c.1609C>T (p.Leu537=) rs139275673 0.00004
NM_012210.4(TRIM32):c.1623G>A (p.Gln541=) rs201083322 0.00004
NM_012210.4(TRIM32):c.201T>C (p.Ile67=) rs780799984 0.00004
NM_012210.4(TRIM32):c.339G>C (p.Arg113=) rs150477945 0.00004
NM_012210.4(TRIM32):c.501G>A (p.Lys167=) rs200085883 0.00004
NM_012210.4(TRIM32):c.1191C>G (p.Val397=) rs757752867 0.00003
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=) rs142715198 0.00002
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=) rs145728860 0.00002
NM_012210.4(TRIM32):c.1728C>T (p.Arg576=) rs774825642 0.00002
NM_012210.4(TRIM32):c.1842G>A (p.Glu614=) rs149509191 0.00002
NM_012210.4(TRIM32):c.1857G>A (p.Pro619=) rs746299779 0.00002
NM_012210.4(TRIM32):c.321G>T (p.Leu107=) rs768844180 0.00002
NM_012210.4(TRIM32):c.543T>C (p.Tyr181=) rs1344038304 0.00002
NM_012210.4(TRIM32):c.603C>T (p.Arg201=) rs767937527 0.00002
NM_012210.4(TRIM32):c.807G>A (p.Leu269=) rs1184553729 0.00002
NM_012210.4(TRIM32):c.978C>T (p.Asp326=) rs759707001 0.00002
NM_012210.4(TRIM32):c.114C>T (p.His38=) rs761012752 0.00001
NM_012210.4(TRIM32):c.1161C>T (p.Val387=) rs751224092 0.00001
NM_012210.4(TRIM32):c.1245T>C (p.Asp415=) rs1297665633 0.00001
NM_012210.4(TRIM32):c.1269G>A (p.Gly423=) rs1335843396 0.00001
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=) rs1372713940 0.00001
NM_012210.4(TRIM32):c.1383C>T (p.Cys461=) rs200244154 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012210.4(TRIM32):c.1437A>T (p.Pro479=) rs1861046990 0.00001
NM_012210.4(TRIM32):c.1578C>T (p.Thr526=) rs778620127 0.00001
NM_012210.4(TRIM32):c.15A>C (p.Ala5=) rs1435764832 0.00001
NM_012210.4(TRIM32):c.270G>A (p.Gly90=) rs369862143 0.00001
NM_012210.4(TRIM32):c.273C>T (p.Leu91=) rs766289627 0.00001
NM_012210.4(TRIM32):c.375G>A (p.Glu125=) rs780765510 0.00001
NM_012210.4(TRIM32):c.474A>G (p.Glu158=) rs955416816 0.00001
NM_012210.4(TRIM32):c.555C>G (p.Leu185=) rs757526804 0.00001
NM_012210.4(TRIM32):c.678C>T (p.Tyr226=) rs398124253 0.00001
NM_012210.4(TRIM32):c.681G>A (p.Leu227=) rs779933628 0.00001
NM_012210.4(TRIM32):c.69C>T (p.Cys23=) rs575633576 0.00001
NM_012210.4(TRIM32):c.756A>G (p.Ala252=) rs1307339518 0.00001
NM_012210.4(TRIM32):c.762G>A (p.Leu254=) rs747057835 0.00001
NM_012210.4(TRIM32):c.795C>G (p.Leu265=) rs756049046 0.00001
NM_012210.4(TRIM32):c.823C>T (p.Leu275=) rs555915611 0.00001
NM_012210.4(TRIM32):c.858T>C (p.Val286=) rs762342489 0.00001
NM_012210.4(TRIM32):c.90G>A (p.Glu30=) rs534259071 0.00001
NM_012210.4(TRIM32):c.948C>T (p.Ala316=) rs1351064837 0.00001
NM_012210.4(TRIM32):c.99T>C (p.Arg33=) rs1057202035 0.00001
NM_012210.4(TRIM32):c.1002C>G (p.Ala334=)
NM_012210.4(TRIM32):c.1014C>T (p.Ala338=)
NM_012210.4(TRIM32):c.1030C>A (p.Arg344=)
NM_012210.4(TRIM32):c.1041G>A (p.Glu347=) rs1588217225
NM_012210.4(TRIM32):c.1059G>A (p.Gln353=)
NM_012210.4(TRIM32):c.1065C>T (p.Cys355=)
NM_012210.4(TRIM32):c.1074C>T (p.Leu358=)
NM_012210.4(TRIM32):c.1095C>G (p.Gly365=) rs1861024296
NM_012210.4(TRIM32):c.1104A>C (p.Pro368=)
NM_012210.4(TRIM32):c.1104A>G (p.Pro368=)
NM_012210.4(TRIM32):c.111G>A (p.Leu37=)
NM_012210.4(TRIM32):c.1125C>G (p.Val375=)
NM_012210.4(TRIM32):c.1125C>T (p.Val375=)
NM_012210.4(TRIM32):c.1146A>G (p.Gln382=)
NM_012210.4(TRIM32):c.1149T>G (p.Gly383=) rs1861027829
NM_012210.4(TRIM32):c.1152A>G (p.Glu384=)
NM_012210.4(TRIM32):c.1155A>C (p.Val385=)
NM_012210.4(TRIM32):c.1167C>T (p.Asp389=)
NM_012210.4(TRIM32):c.1173T>C (p.Gly391=)
NM_012210.4(TRIM32):c.1194T>C (p.Phe398=) rs980926202
NM_012210.4(TRIM32):c.1197C>A (p.Thr399=) rs779442616
NM_012210.4(TRIM32):c.1206C>G (p.Gly402=)
NM_012210.4(TRIM32):c.1218A>G (p.Glu406=)
NM_012210.4(TRIM32):c.1221C>A (p.Ile407=)
NM_012210.4(TRIM32):c.1230C>T (p.Ser410=) rs1055663395
NM_012210.4(TRIM32):c.1255C>T (p.Leu419=) rs2132074396
NM_012210.4(TRIM32):c.1263C>T (p.Phe421=)
NM_012210.4(TRIM32):c.1299A>T (p.Ser433=)
NM_012210.4(TRIM32):c.1314C>T (p.Cys438=)
NM_012210.4(TRIM32):c.1344T>C (p.Tyr448=)
NM_012210.4(TRIM32):c.1350C>T (p.Asn450=)
NM_012210.4(TRIM32):c.1362A>G (p.Val454=)
NM_012210.4(TRIM32):c.1365T>C (p.Tyr455=)
NM_012210.4(TRIM32):c.1374T>C (p.Asp458=)
NM_012210.4(TRIM32):c.1377C>A (p.Gly459=)
NM_012210.4(TRIM32):c.1386G>T (p.Val462=)
NM_012210.4(TRIM32):c.141C>T (p.Cys47=)
NM_012210.4(TRIM32):c.1434G>A (p.Leu478=)
NM_012210.4(TRIM32):c.1437A>G (p.Pro479=)
NM_012210.4(TRIM32):c.1443C>A (p.Gly481=)
NM_012210.4(TRIM32):c.1458C>G (p.Thr486=)
NM_012210.4(TRIM32):c.1461T>C (p.Asp487=) rs922859943
NM_012210.4(TRIM32):c.1464G>A (p.Val488=)
NM_012210.4(TRIM32):c.147G>A (p.Glu49=)
NM_012210.4(TRIM32):c.1491A>G (p.Thr497=)
NM_012210.4(TRIM32):c.1506A>G (p.Ser502=)
NM_012210.4(TRIM32):c.1512G>C (p.Val504=)
NM_012210.4(TRIM32):c.1515C>T (p.Val505=)
NM_012210.4(TRIM32):c.1521C>T (p.Tyr507=)
NM_012210.4(TRIM32):c.1527C>T (p.Cys509=)
NM_012210.4(TRIM32):c.1528C>T (p.Leu510=)
NM_012210.4(TRIM32):c.1530A>C (p.Leu510=) rs145728860
NM_012210.4(TRIM32):c.1539T>C (p.Ala513=) rs1588218403
NM_012210.4(TRIM32):c.153A>G (p.Leu51=) rs1413028401
NM_012210.4(TRIM32):c.154T>C (p.Leu52=)
NM_012210.4(TRIM32):c.1551A>G (p.Lys517=) rs1861054098
NM_012210.4(TRIM32):c.1560C>G (p.Thr520=)
NM_012210.4(TRIM32):c.1563T>C (p.Cys521=)
NM_012210.4(TRIM32):c.1569T>C (p.Ala523=)
NM_012210.4(TRIM32):c.1578C>A (p.Thr526=)
NM_012210.4(TRIM32):c.1578C>G (p.Thr526=) rs778620127
NM_012210.4(TRIM32):c.159C>T (p.Ala53=) rs2132070452
NM_012210.4(TRIM32):c.1602C>T (p.Gly534=)
NM_012210.4(TRIM32):c.1611G>T (p.Leu537=)
NM_012210.4(TRIM32):c.1620G>C (p.Arg540=)
NM_012210.4(TRIM32):c.1635C>T (p.His545=) rs1369528663
NM_012210.4(TRIM32):c.1638G>A (p.Leu546=)
NM_012210.4(TRIM32):c.1653C>T (p.Ser551=)
NM_012210.4(TRIM32):c.1659C>G (p.Gly553=) rs150318692
NM_012210.4(TRIM32):c.1659C>T (p.Gly553=)
NM_012210.4(TRIM32):c.1668C>T (p.Gly556=) rs2132075521
NM_012210.4(TRIM32):c.1671T>C (p.Pro557=)
NM_012210.4(TRIM32):c.1677G>A (p.Gly559=)
NM_012210.4(TRIM32):c.1686T>C (p.Gly562=) rs2132075583
NM_012210.4(TRIM32):c.1689C>T (p.Arg563=)
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=) rs555217187
NM_012210.4(TRIM32):c.1710G>T (p.Ser570=) rs555217187
NM_012210.4(TRIM32):c.1716T>C (p.Asn572=) rs2132075693
NM_012210.4(TRIM32):c.1719G>A (p.Glu573=)
NM_012210.4(TRIM32):c.1737T>C (p.Ala579=) rs1588218802
NM_012210.4(TRIM32):c.1740C>G (p.Gly580=)
NM_012210.4(TRIM32):c.1758T>C (p.Arg586=)
NM_012210.4(TRIM32):c.1770C>T (p.Ile590=) rs776504480
NM_012210.4(TRIM32):c.1788C>A (p.Arg596=)
NM_012210.4(TRIM32):c.1818G>C (p.Gly606=)
NM_012210.4(TRIM32):c.1857G>C (p.Pro619=)
NM_012210.4(TRIM32):c.186C>T (p.Pro62=)
NM_012210.4(TRIM32):c.1872A>G (p.Leu624=)
NM_012210.4(TRIM32):c.1888C>T (p.Leu630=)
NM_012210.4(TRIM32):c.1893G>A (p.Leu631=)
NM_012210.4(TRIM32):c.1899G>A (p.Leu633=)
NM_012210.4(TRIM32):c.1932C>T (p.Ser644=)
NM_012210.4(TRIM32):c.1950T>C (p.Tyr650=) rs1273018123
NM_012210.4(TRIM32):c.213C>T (p.Thr71=) rs2132070638
NM_012210.4(TRIM32):c.216C>T (p.Ser72=) rs1860954629
NM_012210.4(TRIM32):c.217T>C (p.Leu73=)
NM_012210.4(TRIM32):c.21T>A (p.Ser7=)
NM_012210.4(TRIM32):c.222C>T (p.Thr74=)
NM_012210.4(TRIM32):c.240G>C (p.Leu80=)
NM_012210.4(TRIM32):c.243A>G (p.Thr81=)
NM_012210.4(TRIM32):c.246G>A (p.Val82=) rs1418790890
NM_012210.4(TRIM32):c.249A>C (p.Leu83=)
NM_012210.4(TRIM32):c.267T>C (p.Ala89=)
NM_012210.4(TRIM32):c.279G>A (p.Glu93=) rs1189793134
NM_012210.4(TRIM32):c.27G>A (p.Leu9=)
NM_012210.4(TRIM32):c.27G>T (p.Leu9=)
NM_012210.4(TRIM32):c.319C>T (p.Leu107=) rs886042410
NM_012210.4(TRIM32):c.324C>T (p.Pro108=)
NM_012210.4(TRIM32):c.351G>A (p.Leu117=)
NM_012210.4(TRIM32):c.363G>A (p.Glu121=)
NM_012210.4(TRIM32):c.369C>T (p.Cys123=)
NM_012210.4(TRIM32):c.378A>G (p.Ala126=) rs1860970214
NM_012210.4(TRIM32):c.387G>A (p.Gln129=) rs748208744
NM_012210.4(TRIM32):c.408C>A (p.Leu136=) rs2132071452
NM_012210.4(TRIM32):c.423A>G (p.Ala141=)
NM_012210.4(TRIM32):c.426T>C (p.Ala142=) rs2132071526
NM_012210.4(TRIM32):c.42C>A (p.Leu14=)
NM_012210.4(TRIM32):c.433C>A (p.Arg145=) rs763720824
NM_012210.4(TRIM32):c.468G>C (p.Leu156=)
NM_012210.4(TRIM32):c.468G>T (p.Leu156=)
NM_012210.4(TRIM32):c.471G>A (p.Arg157=)
NM_012210.4(TRIM32):c.510G>A (p.Leu170=)
NM_012210.4(TRIM32):c.516T>G (p.Gly172=) rs753234105
NM_012210.4(TRIM32):c.540G>A (p.Arg180=) rs2132072067
NM_012210.4(TRIM32):c.564T>C (p.Tyr188=)
NM_012210.4(TRIM32):c.567G>C (p.Gly189=)
NM_012210.4(TRIM32):c.57A>G (p.Glu19=)
NM_012210.4(TRIM32):c.597G>A (p.Leu199=)
NM_012210.4(TRIM32):c.603C>A (p.Arg201=) rs767937527
NM_012210.4(TRIM32):c.621A>C (p.Thr207=)
NM_012210.4(TRIM32):c.624C>A (p.Gly208=)
NM_012210.4(TRIM32):c.624C>T (p.Gly208=)
NM_012210.4(TRIM32):c.633T>C (p.Ala211=) rs753960738
NM_012210.4(TRIM32):c.654T>C (p.Ser218=)
NM_012210.4(TRIM32):c.660G>A (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.660G>C (p.Val220=) rs3747833
NM_012210.4(TRIM32):c.663A>C (p.Val221=)
NM_012210.4(TRIM32):c.666G>A (p.Glu222=)
NM_012210.4(TRIM32):c.699G>T (p.Val233=) rs1057521228
NM_012210.4(TRIM32):c.723C>T (p.Tyr241=)
NM_012210.4(TRIM32):c.735G>A (p.Lys245=)
NM_012210.4(TRIM32):c.744G>A (p.Gln248=) rs750466433
NM_012210.4(TRIM32):c.753A>C (p.Val251=)
NM_012210.4(TRIM32):c.756A>T (p.Ala252=)
NM_012210.4(TRIM32):c.777T>C (p.Asp259=) rs2132072865
NM_012210.4(TRIM32):c.780G>A (p.Glu260=)
NM_012210.4(TRIM32):c.792G>A (p.Glu264=)
NM_012210.4(TRIM32):c.798T>G (p.Thr266=) rs1588216749
NM_012210.4(TRIM32):c.810T>C (p.Pro270=)
NM_012210.4(TRIM32):c.822C>A (p.Thr274=)
NM_012210.4(TRIM32):c.825G>A (p.Leu275=)
NM_012210.4(TRIM32):c.843T>C (p.Leu281=)
NM_012210.4(TRIM32):c.846G>A (p.Lys282=)
NM_012210.4(TRIM32):c.855T>C (p.His285=) rs1290656615
NM_012210.4(TRIM32):c.867C>T (p.Leu289=)
NM_012210.4(TRIM32):c.894C>G (p.Pro298=)
NM_012210.4(TRIM32):c.900A>G (p.Thr300=)
NM_012210.4(TRIM32):c.906C>T (p.Asn302=)
NM_012210.4(TRIM32):c.909G>C (p.Val303=)
NM_012210.4(TRIM32):c.915T>C (p.Asp305=)
NM_012210.4(TRIM32):c.924C>A (p.Ala308=)
NM_012210.4(TRIM32):c.933C>T (p.Ala311=) rs2132073435
NM_012210.4(TRIM32):c.936A>G (p.Thr312=)
NM_012210.4(TRIM32):c.939G>A (p.Ala313=) rs375442860
NM_012210.4(TRIM32):c.939G>T (p.Ala313=) rs375442860
NM_012210.4(TRIM32):c.957T>C (p.Ser319=)
NM_012210.4(TRIM32):c.963T>G (p.Thr321=)
NM_012210.4(TRIM32):c.972G>A (p.Glu324=) rs904444090

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