ClinVar Miner

List of variants in gene BIN1 reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_139343.3(BIN1):c.85-177A>G rs7562227 0.58527
NM_139343.3(BIN1):c.1002+163T>C rs2276582 0.53506
NM_139343.3(BIN1):c.1372-90C>T rs6745677 0.38066
NM_139343.3(BIN1):c.1263+301G>A rs17014818 0.35315
NM_139343.3(BIN1):c.1573-128T>A rs2071270 0.35075
NM_139343.3(BIN1):c.1131+324T>C rs3754620 0.33604
NM_139343.3(BIN1):c.1132-126_1132-125dup rs35339559 0.33588
NM_139343.3(BIN1):c.1371+323A>C rs4663089 0.33513
NM_139343.3(BIN1):c.1371+322T>G rs4663090 0.33506
NM_139343.3(BIN1):c.412-25T>C rs67327804 0.33319
NM_139343.3(BIN1):c.857+1285C>T rs1108031 0.33149
NM_139343.3(BIN1):c.1131+268C>T rs3754618 0.33053
NM_139343.3(BIN1):c.85-5192C>T rs11682128 0.32685
NM_139343.2(BIN1):c.-581C>T rs13032148 0.31728
NM_139343.3(BIN1):c.85-5499G>T rs10194375 0.31466
NM_139343.3(BIN1):c.1462-44C>T rs2043798 0.31282
NM_139343.3(BIN1):c.698+10A>G rs72481904 0.30545
NM_139343.3(BIN1):c.774+62G>A rs2071268 0.30494
NM_139343.3(BIN1):c.486T>C (p.Thr162=) rs1060743 0.29063
NM_139343.3(BIN1):c.520-137C>T rs934826 0.21095
NM_139343.3(BIN1):c.1674+56G>A rs7568161 0.20707
NM_139343.3(BIN1):c.858-12C>A rs6720741 0.20254
NM_139343.3(BIN1):c.85-102A>G rs13387613 0.18106
NM_139343.3(BIN1):c.85-246G>A rs13430398 0.18104
NM_139343.3(BIN1):c.165+66A>G rs2276575 0.18083
NM_139343.3(BIN1):c.165+239G>A rs2276576 0.17080
NM_139343.3(BIN1):c.519+241T>C rs114446285 0.16770
NM_139343.3(BIN1):c.85-5231C>T rs61525314 0.16719
NM_139343.3(BIN1):c.1131+214A>G rs3754617 0.16055
NM_139343.3(BIN1):c.85-87G>A rs62157856 0.15700
NM_139343.3(BIN1):c.412-226C>T rs3768858 0.15475
NM_139343.3(BIN1):c.698+57G>A rs2071267 0.15308
NM_139343.3(BIN1):c.85-5252A>G rs11690153 0.14419
NM_139343.3(BIN1):c.1131+273C>T rs3754619 0.14358
NM_139343.3(BIN1):c.957C>T (p.Ala319=) rs2276579 0.13837
NM_139343.3(BIN1):c.1240-21C>T rs76414720 0.13601
NM_139343.3(BIN1):c.-27C>T rs11554586 0.13209
NM_139343.3(BIN1):c.84+236G>T rs2276574 0.12232
NM_139343.3(BIN1):c.858-1290G>A rs74895054 0.10894
NM_139343.3(BIN1):c.698+56C>T rs78935905 0.10880
NM_139343.3(BIN1):c.1132-186G>A rs79527490 0.10795
NM_139343.3(BIN1):c.775-4G>A rs61748157 0.10181
NM_139343.3(BIN1):c.84+287T>C rs13417187 0.08523
NC_000002.12:g.127107516A>G rs56772251 0.08513
NC_000002.12:g.127107479C>T rs56853185 0.08508
NM_139343.3(BIN1):c.1573-18G>C rs12466912 0.04714
NM_139343.3(BIN1):c.1573-29G>C rs12466914 0.04523
NM_139343.3(BIN1):c.714C>T (p.Tyr238=) rs1137845 0.04283
NM_139343.3(BIN1):c.894G>A (p.Ser298=) rs2228955 0.03955
NM_139343.3(BIN1):c.1002+112T>C rs2276581 0.03746
NM_139343.3(BIN1):c.1002+51C>T rs2276580 0.03733
NM_139343.3(BIN1):c.1132-222G>A rs75539206 0.03732
NM_139343.3(BIN1):c.1003-61C>T rs3754615 0.03729
NM_139343.3(BIN1):c.85-5152G>A rs4663093 0.03688
NM_139343.3(BIN1):c.85-4981C>G rs113741343 0.03437
NM_139343.3(BIN1):c.1132-226T>C rs79968379 0.03428
NM_139343.3(BIN1):c.1674+143G>A rs12466852 0.03327
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met) rs112318500 0.03069
NM_139343.3(BIN1):c.1239+50A>C rs79410526 0.02891
NM_139343.3(BIN1):c.1132-91C>G rs142568045 0.02451
NM_139343.3(BIN1):c.857+134G>T rs111897541 0.02342
NM_139343.3(BIN1):c.85-5416G>A rs148981230 0.02222
NM_139343.3(BIN1):c.1462-94C>T rs115511091 0.01537
NM_139343.3(BIN1):c.1003-212G>T rs116250503 0.01509
NM_139343.3(BIN1):c.1263+310T>C rs78308373 0.01451
NM_139343.3(BIN1):c.1362G>T (p.Gly454=) rs61748155 0.01414
NM_139343.3(BIN1):c.857+1410C>G rs75761293 0.01128
NM_139343.3(BIN1):c.857+22G>A rs115112451 0.01001
NM_139343.3(BIN1):c.857+180G>A rs144499428 0.00979
NM_139343.3(BIN1):c.1263+11C>T rs78967885 0.00935
NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg) rs138047593 0.00841
NM_139343.3(BIN1):c.612+242A>G rs116527141 0.00738
NM_139343.3(BIN1):c.1003-312G>T rs143611564 0.00695
NM_139343.3(BIN1):c.520-85C>G rs142862911 0.00645
NM_139343.3(BIN1):c.1371+201C>T rs147718472 0.00567
NM_139343.3(BIN1):c.698+50G>A rs116251462 0.00508
NM_139343.3(BIN1):c.1263+259G>C rs115126471 0.00502
NM_139343.3(BIN1):c.1132-7T>C rs115938552 0.00498
NM_139343.3(BIN1):c.1674+192G>A rs114740593 0.00497
NM_139343.3(BIN1):c.165+44C>T rs73953230 0.00484
NM_139343.3(BIN1):c.1461+46G>A rs139598933 0.00469
NM_139343.3(BIN1):c.1131+53C>T rs115790292 0.00460
NM_139343.3(BIN1):c.612+143_612+144del rs149861120 0.00449
NM_139343.3(BIN1):c.520-140G>A rs147622091 0.00428
NM_139343.3(BIN1):c.411+87G>A rs191287929 0.00411
NM_139343.3(BIN1):c.888C>T (p.Ser296=) rs114833236 0.00403
NM_139343.3(BIN1):c.166-52G>A rs143941695 0.00342
NC_000002.12:g.127107512G>C rs569136401 0.00335
NM_139343.3(BIN1):c.1003-41G>A rs3754616 0.00292
NM_139343.3(BIN1):c.858-5C>T rs75328896 0.00222
NM_139343.3(BIN1):c.384G>A (p.Thr128=) rs61748158 0.00203
NM_139343.3(BIN1):c.1131+301G>A rs531903369 0.00149
NM_139343.3(BIN1):c.858-1462G>A rs117721706 0.00105
NM_139343.3(BIN1):c.1611C>T (p.Asp537=) rs142523172 0.00101
NM_139343.3(BIN1):c.-7C>T rs371530719 0.00098
NM_139343.3(BIN1):c.519+40G>A rs372195051 0.00087
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_139343.3(BIN1):c.471C>T (p.Tyr157=) rs138885327 0.00058
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu) rs141119288 0.00043
NM_139343.3(BIN1):c.858-1466T>C rs148473945 0.00041
NM_139343.3(BIN1):c.715G>A (p.Val239Ile) rs146573197 0.00036
NM_139343.3(BIN1):c.696C>A (p.Asn232Lys) rs143820618 0.00034
NM_139343.3(BIN1):c.906C>T (p.Gly302=) rs371258305 0.00031
NM_139343.3(BIN1):c.858-1421C>T rs201785629 0.00028
NM_139343.3(BIN1):c.402C>T (p.Pro134=) rs144136512 0.00023
NM_139343.3(BIN1):c.1131+7C>T rs376590911 0.00021
NM_139343.3(BIN1):c.961G>A (p.Gly321Arg) rs557276019 0.00021
NM_139343.3(BIN1):c.1143G>A (p.Pro381=) rs372360787 0.00018
NM_139343.3(BIN1):c.1003-11C>G rs759676621 0.00014
NM_139343.3(BIN1):c.1006C>T (p.Arg336Trp) rs76037557 0.00014
NM_139343.3(BIN1):c.925G>A (p.Glu309Lys) rs374565677 0.00011
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00010
NM_139343.3(BIN1):c.1264-5A>C rs541219767 0.00009
NM_139343.3(BIN1):c.636C>T (p.Ala212=) rs201238412 0.00009
NM_139343.3(BIN1):c.805G>A (p.Gly269Ser) rs372072916 0.00009
NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu) rs753599819 0.00007
NM_139343.3(BIN1):c.*1C>T rs770804438 0.00006
NM_139343.3(BIN1):c.1439C>T (p.Thr480Met) rs780918654 0.00006
NM_139343.3(BIN1):c.858-1472C>G rs185803812 0.00006
NM_139343.3(BIN1):c.52G>A (p.Val18Met) rs566597765 0.00005
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371 0.00005
NM_139343.3(BIN1):c.1573-14C>T rs760955602 0.00004
NM_139343.3(BIN1):c.1003-16C>T rs547659375 0.00003
NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu) rs794727107 0.00003
NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu) rs368616652 0.00003
NM_139343.3(BIN1):c.1197G>A (p.Pro399=) rs370728071 0.00003
NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser) rs200124094 0.00003
NM_139343.3(BIN1):c.698+9C>T rs763703697 0.00003
NM_139343.3(BIN1):c.661G>A (p.Val221Met) rs573529529 0.00002
NM_139343.3(BIN1):c.1114G>A (p.Val372Met) rs749198133 0.00001
NM_139343.3(BIN1):c.1119C>T (p.Thr373=) rs1444368852 0.00001
NM_139343.3(BIN1):c.1435G>C (p.Glu479Gln) rs865803817 0.00001
NM_139343.3(BIN1):c.416G>A (p.Arg139His) rs755355125 0.00001
NM_139343.3(BIN1):c.698+14C>T rs376710764 0.00001
NM_139343.3(BIN1):c.775-9C>T rs1310448296 0.00001
NM_139343.3(BIN1):c.84+15G>T rs769721985 0.00001
NM_139343.3(BIN1):c.893C>T (p.Ser298Leu) rs754707833 0.00001
NC_000002.12:g.127107528C>G rs77260225
NC_000002.12:g.127107562GTGCCCG[2] rs3830435
NM_004305.4(BIN1):c.85-5345C>T rs565684463
NM_139343.2(BIN1):c.-585G>A rs77260225
NM_139343.3(BIN1):c.*82C>A rs111649895
NM_139343.3(BIN1):c.1002+2T>C rs1553458019
NM_139343.3(BIN1):c.1003-296del rs11289928
NM_139343.3(BIN1):c.1120A>G (p.Thr374Ala)
NM_139343.3(BIN1):c.1139C>T (p.Ala380Val) rs1553453967
NM_139343.3(BIN1):c.1263+2T>C
NM_139343.3(BIN1):c.1264-11_1270del rs776737413
NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)
NM_139343.3(BIN1):c.1397_1414del (p.Gly466_Ala471del) rs1553450921
NM_139343.3(BIN1):c.155A>T (p.Asn52Ile)
NM_139343.3(BIN1):c.1573-63C>G rs7558000
NM_139343.3(BIN1):c.1573-63C>T rs7558000
NM_139343.3(BIN1):c.1573-72C>T rs7558001
NM_139343.3(BIN1):c.279T>A (p.Asp93Glu) rs770994335
NM_139343.3(BIN1):c.315+5_315+6delinsAG rs1064796106
NM_139343.3(BIN1):c.411+230GT[15] rs3832046
NM_139343.3(BIN1):c.411+230GT[18] rs3832046
NM_139343.3(BIN1):c.411+230GT[19] rs3832046
NM_139343.3(BIN1):c.411+230GT[20] rs3832046
NM_139343.3(BIN1):c.411+230GT[21] rs3832046
NM_139343.3(BIN1):c.469T>C (p.Tyr157His) rs1553466026
NM_139343.3(BIN1):c.520-141C>T rs183752532
NM_139343.3(BIN1):c.614C>T (p.Ala205Val)
NM_139343.3(BIN1):c.679C>G (p.Leu227Val) rs886054835
NM_139343.3(BIN1):c.698+77_698+97dup rs1197231684
NM_139343.3(BIN1):c.775-13G>T rs778119265
NM_139343.3(BIN1):c.775-6C>G rs753202898
NM_139343.3(BIN1):c.85-298C>G rs17014893
NM_139343.3(BIN1):c.85-5038TG[4] rs148467723
NM_139343.3(BIN1):c.853C>T (p.Pro285Ser) rs958559973
NM_139343.3(BIN1):c.857+1473A>G
NM_139343.3(BIN1):c.858-137CA[10] rs140171337

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