ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease axonal type 2S by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 526
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205 0.00220
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr) rs2228208 0.00157
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316 0.00136
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002180.3(IGHMBP2):c.2355G>A (p.Arg785=) rs147954772 0.00091
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002180.3(IGHMBP2):c.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002180.3(IGHMBP2):c.832C>G (p.His278Asp) rs144681826 0.00044
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00029
NM_002180.3(IGHMBP2):c.2140G>A (p.Gly714Arg) rs146266992 0.00028
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002180.3(IGHMBP2):c.1306C>T (p.Arg436Trp) rs138327042 0.00025
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) rs139065967 0.00019
NM_002180.3(IGHMBP2):c.952A>G (p.Asn318Asp) rs768231851 0.00017
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850 0.00014
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys) rs192806153 0.00014
NM_002180.3(IGHMBP2):c.2612-16C>T rs200337900 0.00014
NM_002180.3(IGHMBP2):c.2608A>G (p.Lys870Glu) rs374632016 0.00013
NM_002180.3(IGHMBP2):c.2703G>A (p.Lys901=) rs1457468543 0.00013
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.1060+10C>T rs200170825 0.00011
NM_002180.3(IGHMBP2):c.1143C>T (p.Leu381=) rs145314949 0.00011
NM_002180.3(IGHMBP2):c.2612-14C>T rs200940488 0.00011
NM_002180.3(IGHMBP2):c.2856C>T (p.Ala952=) rs759627672 0.00010
NM_002180.3(IGHMBP2):c.2881C>T (p.Leu961=) rs145631247 0.00010
NM_002180.3(IGHMBP2):c.2976G>A (p.Gly992=) rs755792559 0.00010
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.2612-13G>A rs369494910 0.00009
NM_002180.3(IGHMBP2):c.2715C>T (p.Gly905=) rs779293148 0.00009
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) rs199863781 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 0.00009
NM_002180.3(IGHMBP2):c.1236-10C>T rs778515935 0.00008
NM_002180.3(IGHMBP2):c.1482C>T (p.Ala494=) rs773180915 0.00008
NM_002180.3(IGHMBP2):c.1633-14G>A rs368126775 0.00008
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00008
NM_002180.3(IGHMBP2):c.2874C>T (p.Asn958=) rs779753312 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002180.3(IGHMBP2):c.2671G>A (p.Val891Ile) rs199614709 0.00007
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333 0.00006
NM_002180.3(IGHMBP2):c.2139C>T (p.Asn713=) rs199879444 0.00006
NM_002180.3(IGHMBP2):c.2286C>T (p.Ala762=) rs149684358 0.00006
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.1236-5C>T rs191443556 0.00005
NM_002180.3(IGHMBP2):c.1794C>T (p.Asn598=) rs1337346956 0.00005
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247 0.00005
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193 0.00005
NM_002180.3(IGHMBP2):c.277G>A (p.Asp93Asn) rs200897747 0.00005
NM_002180.3(IGHMBP2):c.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_002180.3(IGHMBP2):c.1061-15C>T rs369119507 0.00004
NM_002180.3(IGHMBP2):c.1235+7C>T rs776813722 0.00004
NM_002180.3(IGHMBP2):c.1293C>T (p.Gly431=) rs377460631 0.00004
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002180.3(IGHMBP2):c.1749C>T (p.Asn583=) rs922075405 0.00004
NM_002180.3(IGHMBP2):c.1851C>T (p.Val617=) rs780238088 0.00004
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=) rs139237340 0.00004
NM_002180.3(IGHMBP2):c.2292G>A (p.Glu764=) rs145365851 0.00004
NM_002180.3(IGHMBP2):c.256+8C>T rs760649755 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.2776C>T (p.Leu926=) rs142128884 0.00004
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00004
NM_002180.3(IGHMBP2):c.315C>A (p.Ile105=) rs1201956816 0.00004
NM_002180.3(IGHMBP2):c.951T>C (p.Ser317=) rs144565481 0.00004
NM_002180.3(IGHMBP2):c.1032G>A (p.Ser344=) rs779452908 0.00003
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.1418+12G>A rs946450534 0.00003
NM_002180.3(IGHMBP2):c.1791C>T (p.Ile597=) rs780440710 0.00003
NM_002180.3(IGHMBP2):c.1902G>A (p.Gly634=) rs748530497 0.00003
NM_002180.3(IGHMBP2):c.1932C>T (p.Asp644=) rs769397483 0.00003
NM_002180.3(IGHMBP2):c.225G>A (p.Ala75=) rs762291036 0.00003
NM_002180.3(IGHMBP2):c.548-19G>A rs1052895374 0.00003
NM_002180.3(IGHMBP2):c.711+8G>A rs1403938196 0.00003
NM_002180.3(IGHMBP2):c.793C>T (p.Leu265=) rs770943023 0.00003
NM_002180.3(IGHMBP2):c.87-19A>G rs183650590 0.00003
NM_002180.3(IGHMBP2):c.1060+11G>A rs761888334 0.00002
NM_002180.3(IGHMBP2):c.1061-19G>A rs775305272 0.00002
NM_002180.3(IGHMBP2):c.1065G>A (p.Ala355=) rs529978266 0.00002
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=) rs755300047 0.00002
NM_002180.3(IGHMBP2):c.1110C>T (p.Asp370=) rs749110357 0.00002
NM_002180.3(IGHMBP2):c.1538-19G>A rs199911239 0.00002
NM_002180.3(IGHMBP2):c.1538-4C>G rs757915735 0.00002
NM_002180.3(IGHMBP2):c.207C>T (p.Pro69=) rs188719450 0.00002
NM_002180.3(IGHMBP2):c.216C>T (p.Tyr72=) rs755468547 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2670C>T (p.Ala890=) rs759271458 0.00002
NM_002180.3(IGHMBP2):c.2685C>T (p.Asn895=) rs764107109 0.00002
NM_002180.3(IGHMBP2):c.273G>T (p.Leu91=) rs772280279 0.00002
NM_002180.3(IGHMBP2):c.2836C>T (p.Arg946Trp) rs373943338 0.00002
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) rs377433281 0.00002
NM_002180.3(IGHMBP2):c.2925G>A (p.Lys975=) rs890113569 0.00002
NM_002180.3(IGHMBP2):c.339G>A (p.Ser113=) rs150937080 0.00002
NM_002180.3(IGHMBP2):c.639T>C (p.His213=) rs764495455 0.00002
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) rs771900045 0.00002
NM_002180.3(IGHMBP2):c.1038C>T (p.Asn346=) rs773013486 0.00001
NM_002180.3(IGHMBP2):c.1077C>T (p.Gly359=) rs1247103419 0.00001
NM_002180.3(IGHMBP2):c.1120A>G (p.Ile374Val) rs374845226 0.00001
NM_002180.3(IGHMBP2):c.1137G>A (p.Gln379=) rs35995205 0.00001
NM_002180.3(IGHMBP2):c.1140C>T (p.Ala380=) rs1176740254 0.00001
NM_002180.3(IGHMBP2):c.1167G>C (p.Leu389=) rs369809006 0.00001
NM_002180.3(IGHMBP2):c.1185C>T (p.Cys395=) rs756733490 0.00001
NM_002180.3(IGHMBP2):c.1197C>T (p.Gly399=) rs377631839 0.00001
NM_002180.3(IGHMBP2):c.1235+9C>T rs553889213 0.00001
NM_002180.3(IGHMBP2):c.1236-4G>A rs746867102 0.00001
NM_002180.3(IGHMBP2):c.1296G>A (p.Ala432=) rs759035035 0.00001
NM_002180.3(IGHMBP2):c.129A>G (p.Arg43=) rs368706911 0.00001
NM_002180.3(IGHMBP2):c.1344C>T (p.Ile448=) rs1209510520 0.00001
NM_002180.3(IGHMBP2):c.1386A>G (p.Thr462=) rs1321342951 0.00001
NM_002180.3(IGHMBP2):c.1407G>A (p.Arg469=) rs1302845532 0.00001
NM_002180.3(IGHMBP2):c.1452G>A (p.Thr484=) rs1368846781 0.00001
NM_002180.3(IGHMBP2):c.1479C>T (p.Thr493=) rs370367228 0.00001
NM_002180.3(IGHMBP2):c.1483G>A (p.Gly495Ser) rs201964221 0.00001
NM_002180.3(IGHMBP2):c.1515C>T (p.Asp505=) rs538496164 0.00001
NM_002180.3(IGHMBP2):c.1530G>A (p.Gly510=) rs1210997043 0.00001
NM_002180.3(IGHMBP2):c.1537+9G>C rs1859419581 0.00001
NM_002180.3(IGHMBP2):c.1596C>T (p.Ala532=) rs988590959 0.00001
NM_002180.3(IGHMBP2):c.1614C>T (p.Val538=) rs746241618 0.00001
NM_002180.3(IGHMBP2):c.162C>T (p.Ser54=) rs747822666 0.00001
NM_002180.3(IGHMBP2):c.1722C>T (p.Ala574=) rs200081534 0.00001
NM_002180.3(IGHMBP2):c.1756+13C>T rs568649635 0.00001
NM_002180.3(IGHMBP2):c.1756+17A>G rs757390726 0.00001
NM_002180.3(IGHMBP2):c.1756+8G>T rs1441125557 0.00001
NM_002180.3(IGHMBP2):c.1757-6T>C rs1594455341 0.00001
NM_002180.3(IGHMBP2):c.175C>T (p.Leu59=) rs1388384906 0.00001
NM_002180.3(IGHMBP2):c.1983C>T (p.His661=) rs752907111 0.00001
NM_002180.3(IGHMBP2):c.2022G>A (p.Arg674=) rs111366439 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2175C>T (p.Gly725=) rs773046519 0.00001
NM_002180.3(IGHMBP2):c.2259C>T (p.His753=) rs777663590 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002180.3(IGHMBP2):c.2307C>T (p.His769=) rs909093295 0.00001
NM_002180.3(IGHMBP2):c.2346G>A (p.Val782=) rs1349360990 0.00001
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00001
NM_002180.3(IGHMBP2):c.2397C>T (p.Thr799=) rs763818374 0.00001
NM_002180.3(IGHMBP2):c.2415C>G (p.Leu805=) rs1429055770 0.00001
NM_002180.3(IGHMBP2):c.243C>T (p.Asn81=) rs1594415602 0.00001
NM_002180.3(IGHMBP2):c.246C>T (p.Ser82=) rs1057524376 0.00001
NM_002180.3(IGHMBP2):c.2496G>A (p.Thr832=) rs756948501 0.00001
NM_002180.3(IGHMBP2):c.2499G>A (p.Leu833=) rs371840404 0.00001
NM_002180.3(IGHMBP2):c.256+7G>A rs1312545588 0.00001
NM_002180.3(IGHMBP2):c.2611+9A>G rs778897070 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.267G>C (p.Val89=) rs932085759 0.00001
NM_002180.3(IGHMBP2):c.2688C>G (p.Thr896=) rs1566448372 0.00001
NM_002180.3(IGHMBP2):c.2724C>T (p.Thr908=) rs1234917202 0.00001
NM_002180.3(IGHMBP2):c.2796C>T (p.Cys932=) rs112870015 0.00001
NM_002180.3(IGHMBP2):c.2838G>A (p.Arg946=) rs778821393 0.00001
NM_002180.3(IGHMBP2):c.2928G>A (p.Lys976=) rs749364778 0.00001
NM_002180.3(IGHMBP2):c.2931G>C (p.Leu977=) rs768924538 0.00001
NM_002180.3(IGHMBP2):c.2943C>T (p.Ser981=) rs773684186 0.00001
NM_002180.3(IGHMBP2):c.2949G>A (p.Gln983=) rs761315649 0.00001
NM_002180.3(IGHMBP2):c.2958C>T (p.Ser986=) rs754380977 0.00001
NM_002180.3(IGHMBP2):c.342C>A (p.Val114=) rs756861635 0.00001
NM_002180.3(IGHMBP2):c.345G>A (p.Thr115=) rs747166731 0.00001
NM_002180.3(IGHMBP2):c.399C>G (p.Ser133=) rs1272309665 0.00001
NM_002180.3(IGHMBP2):c.453C>T (p.Ala151=) rs752694569 0.00001
NM_002180.3(IGHMBP2):c.492C>T (p.Ser164=) rs1381446523 0.00001
NM_002180.3(IGHMBP2):c.547+9T>G rs886048603 0.00001
NM_002180.3(IGHMBP2):c.548-13G>T rs1198884720 0.00001
NM_002180.3(IGHMBP2):c.585C>T (p.Ser195=) rs1442536361 0.00001
NM_002180.3(IGHMBP2):c.597G>A (p.Ala199=) rs780961121 0.00001
NM_002180.3(IGHMBP2):c.609G>A (p.Ala203=) rs761677597 0.00001
NM_002180.3(IGHMBP2):c.666G>A (p.Thr222=) rs755634860 0.00001
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) rs748899869 0.00001
NM_002180.3(IGHMBP2):c.6C>T (p.Ala2=) rs1168042239 0.00001
NM_002180.3(IGHMBP2):c.711+10G>C rs1484976321 0.00001
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) rs755582766 0.00001
NM_002180.3(IGHMBP2):c.891G>A (p.Arg297=) rs181492004 0.00001
NM_002180.3(IGHMBP2):c.954T>C (p.Asn318=) rs1482496537 0.00001
NM_002180.3(IGHMBP2):c.1008A>G (p.Ala336=)
NM_002180.3(IGHMBP2):c.1011T>G (p.Ala337=)
NM_002180.3(IGHMBP2):c.1017C>G (p.Leu339=)
NM_002180.3(IGHMBP2):c.1017C>T (p.Leu339=)
NM_002180.3(IGHMBP2):c.1026C>T (p.Leu342=)
NM_002180.3(IGHMBP2):c.1053A>C (p.Thr351=)
NM_002180.3(IGHMBP2):c.1060+18T>A
NM_002180.3(IGHMBP2):c.1060+7G>A
NM_002180.3(IGHMBP2):c.1060+8G>C
NM_002180.3(IGHMBP2):c.1060+9G>A
NM_002180.3(IGHMBP2):c.1061-16T>C
NM_002180.3(IGHMBP2):c.1061-20C>A
NM_002180.3(IGHMBP2):c.1061-20C>T
NM_002180.3(IGHMBP2):c.1065G>T (p.Ala355=)
NM_002180.3(IGHMBP2):c.1074T>C (p.Asp358=)
NM_002180.3(IGHMBP2):c.1080C>G (p.Pro360=)
NM_002180.3(IGHMBP2):c.1086G>A (p.Lys362=)
NM_002180.3(IGHMBP2):c.108T>G (p.Ser36=) rs2154006530
NM_002180.3(IGHMBP2):c.1095C>T (p.Pro365=)
NM_002180.3(IGHMBP2):c.1101C>T (p.Ser367=)
NM_002180.3(IGHMBP2):c.1107C>T (p.Phe369=)
NM_002180.3(IGHMBP2):c.1122T>C (p.Ile374=)
NM_002180.3(IGHMBP2):c.1143C>G (p.Leu381=) rs145314949
NM_002180.3(IGHMBP2):c.1161C>T (p.Ile387=)
NM_002180.3(IGHMBP2):c.1164C>G (p.Pro388=)
NM_002180.3(IGHMBP2):c.1165C>T (p.Leu389=)
NM_002180.3(IGHMBP2):c.117G>A (p.Glu39=)
NM_002180.3(IGHMBP2):c.1218C>A (p.Pro406=)
NM_002180.3(IGHMBP2):c.1218C>G (p.Pro406=)
NM_002180.3(IGHMBP2):c.1235+10del rs747881237
NM_002180.3(IGHMBP2):c.1235+13T>C
NM_002180.3(IGHMBP2):c.1235+17_1235+25del
NM_002180.3(IGHMBP2):c.1235+18_1235+27del
NM_002180.3(IGHMBP2):c.1235+20_1235+21del
NM_002180.3(IGHMBP2):c.1235+894C>G
NM_002180.3(IGHMBP2):c.1235+894C>T
NM_002180.3(IGHMBP2):c.1236-17C>T
NM_002180.3(IGHMBP2):c.1236-19T>A
NM_002180.3(IGHMBP2):c.1236-4G>T
NM_002180.3(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.3(IGHMBP2):c.1236-6G>T
NM_002180.3(IGHMBP2):c.1239T>C (p.Ala413=)
NM_002180.3(IGHMBP2):c.1242G>A (p.Ala414=)
NM_002180.3(IGHMBP2):c.1254G>A (p.Leu418=)
NM_002180.3(IGHMBP2):c.1260C>G (p.Leu420=) rs1345673085
NM_002180.3(IGHMBP2):c.1263C>T (p.Ser421=)
NM_002180.3(IGHMBP2):c.1287G>A (p.Glu429=)
NM_002180.3(IGHMBP2):c.12A>G (p.Ala4=)
NM_002180.3(IGHMBP2):c.1307G>A (p.Arg436Gln)
NM_002180.3(IGHMBP2):c.1317G>A (p.Thr439=)
NM_002180.3(IGHMBP2):c.1362C>T (p.Asp454=)
NM_002180.3(IGHMBP2):c.1377G>C (p.Gly459=)
NM_002180.3(IGHMBP2):c.1383C>T (p.Leu461=)
NM_002180.3(IGHMBP2):c.1392C>T (p.His464=)
NM_002180.3(IGHMBP2):c.1395T>C (p.Ser465=) rs1594451498
NM_002180.3(IGHMBP2):c.1398C>G (p.Ser466=)
NM_002180.3(IGHMBP2):c.1398C>T (p.Ser466=) rs147477786
NM_002180.3(IGHMBP2):c.1410C>T (p.His470=) rs1484199036
NM_002180.3(IGHMBP2):c.1413C>G (p.Leu471=)
NM_002180.3(IGHMBP2):c.1416G>A (p.Leu472=)
NM_002180.3(IGHMBP2):c.1418+13G>T
NM_002180.3(IGHMBP2):c.1419-10T>C
NM_002180.3(IGHMBP2):c.1419-17C>T
NM_002180.3(IGHMBP2):c.1419-8T>C
NM_002180.3(IGHMBP2):c.1428A>G (p.Pro476=)
NM_002180.3(IGHMBP2):c.1443A>G (p.Thr481=)
NM_002180.3(IGHMBP2):c.1461C>T (p.Pro487=)
NM_002180.3(IGHMBP2):c.1464G>A (p.Leu488=)
NM_002180.3(IGHMBP2):c.1464G>C (p.Leu488=)
NM_002180.3(IGHMBP2):c.1468T>C (p.Leu490=)
NM_002180.3(IGHMBP2):c.1470G>A (p.Leu490=)
NM_002180.3(IGHMBP2):c.1479C>G (p.Thr493=) rs370367228
NM_002180.3(IGHMBP2):c.1488C>T (p.Cys496=) rs145226920
NM_002180.3(IGHMBP2):c.1494G>A (p.Leu498=)
NM_002180.3(IGHMBP2):c.1503G>T (p.Leu501=)
NM_002180.3(IGHMBP2):c.150G>T (p.Leu50=)
NM_002180.3(IGHMBP2):c.1518A>G (p.Glu506=)
NM_002180.3(IGHMBP2):c.1524G>A (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1524G>C (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1524G>T (p.Ser508=) rs747627986
NM_002180.3(IGHMBP2):c.1537+10C>T
NM_002180.3(IGHMBP2):c.1537+13G>A
NM_002180.3(IGHMBP2):c.1537+18T>C
NM_002180.3(IGHMBP2):c.1538-11_1538-8del rs1566444289
NM_002180.3(IGHMBP2):c.1538-20C>G
NM_002180.3(IGHMBP2):c.1538-4C>T rs757915735
NM_002180.3(IGHMBP2):c.1538-5T>G
NM_002180.3(IGHMBP2):c.1538-7C>A
NM_002180.3(IGHMBP2):c.1538-9T>A
NM_002180.3(IGHMBP2):c.1539C>G (p.Gly513=) rs746624957
NM_002180.3(IGHMBP2):c.1539C>T (p.Gly513=) rs746624957
NM_002180.3(IGHMBP2):c.1578G>A (p.Val526=)
NM_002180.3(IGHMBP2):c.1584T>G (p.Ala528=) rs1461885178
NM_002180.3(IGHMBP2):c.15T>A (p.Ala5=)
NM_002180.3(IGHMBP2):c.1608T>A (p.Ala536=)
NM_002180.3(IGHMBP2):c.1617G>A (p.Ser539=)
NM_002180.3(IGHMBP2):c.1632+12T>C
NM_002180.3(IGHMBP2):c.1632+13C>T
NM_002180.3(IGHMBP2):c.1632+15T>A
NM_002180.3(IGHMBP2):c.1632+16T>G
NM_002180.3(IGHMBP2):c.1632+19G>A
NM_002180.3(IGHMBP2):c.1632+7G>A
NM_002180.3(IGHMBP2):c.1632+8G>A
NM_002180.3(IGHMBP2):c.1633-12C>G
NM_002180.3(IGHMBP2):c.1633-15C>T
NM_002180.3(IGHMBP2):c.1638C>T (p.Asp546=)
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.168C>T (p.Arg56=) rs2154006537
NM_002180.3(IGHMBP2):c.1692C>T (p.Val564=)
NM_002180.3(IGHMBP2):c.1701C>T (p.Phe567=) rs2154008770
NM_002180.3(IGHMBP2):c.1713G>A (p.Glu571=)
NM_002180.3(IGHMBP2):c.1719G>A (p.Glu573=)
NM_002180.3(IGHMBP2):c.171T>C (p.Thr57=)
NM_002180.3(IGHMBP2):c.1731G>C (p.Leu577=)
NM_002180.3(IGHMBP2):c.1734C>T (p.Ser578=)
NM_002180.3(IGHMBP2):c.1741A>C (p.Arg581=)
NM_002180.3(IGHMBP2):c.1756+7A>G
NM_002180.3(IGHMBP2):c.1757-13T>C
NM_002180.3(IGHMBP2):c.1757-17C>T
NM_002180.3(IGHMBP2):c.1757-19C>T
NM_002180.3(IGHMBP2):c.1757-4G>A
NM_002180.3(IGHMBP2):c.1757-9C>T
NM_002180.3(IGHMBP2):c.1773T>G (p.Leu591=)
NM_002180.3(IGHMBP2):c.177G>A (p.Leu59=) rs776499527
NM_002180.3(IGHMBP2):c.1783C>A (p.Arg595=)
NM_002180.3(IGHMBP2):c.1803C>T (p.Val601=)
NM_002180.3(IGHMBP2):c.1806C>T (p.Thr602=)
NM_002180.3(IGHMBP2):c.1824G>C (p.Val608=)
NM_002180.3(IGHMBP2):c.1848T>C (p.Thr616=) rs1164401206
NM_002180.3(IGHMBP2):c.184C>A (p.Arg62=) rs768631087
NM_002180.3(IGHMBP2):c.1854C>T (p.Asn618=)
NM_002180.3(IGHMBP2):c.1857C>T (p.Asn619=)
NM_002180.3(IGHMBP2):c.189G>C (p.Leu63=)
NM_002180.3(IGHMBP2):c.1923G>A (p.Glu641=) rs1555247971
NM_002180.3(IGHMBP2):c.1938T>C (p.Ile646=) rs1555247978
NM_002180.3(IGHMBP2):c.195C>T (p.Val65=)
NM_002180.3(IGHMBP2):c.1974T>G (p.Gly658=) rs1859531837
NM_002180.3(IGHMBP2):c.1977C>T (p.Ser659=)
NM_002180.3(IGHMBP2):c.1986T>C (p.Ala662=)
NM_002180.3(IGHMBP2):c.1989C>T (p.Ala663=)
NM_002180.3(IGHMBP2):c.1998C>T (p.Pro666=) rs1308205831
NM_002180.3(IGHMBP2):c.2013G>A (p.Thr671=)
NM_002180.3(IGHMBP2):c.2043G>A (p.Glu681=)
NM_002180.3(IGHMBP2):c.2079_2080delinsGT (p.Arg694Trp) rs2154008864
NM_002180.3(IGHMBP2):c.2094T>C (p.Ala698=)
NM_002180.3(IGHMBP2):c.2118T>C (p.Ala706=)
NM_002180.3(IGHMBP2):c.211C>A (p.Arg71=) rs773543257
NM_002180.3(IGHMBP2):c.2121A>C (p.Pro707=) rs1342765347
NM_002180.3(IGHMBP2):c.2157A>G (p.Gly719=) rs774145467
NM_002180.3(IGHMBP2):c.2172T>C (p.Asp724=)
NM_002180.3(IGHMBP2):c.2193C>T (p.Ala731=)
NM_002180.3(IGHMBP2):c.2202G>C (p.Val734=)
NM_002180.3(IGHMBP2):c.2230T>C (p.Leu744=)
NM_002180.3(IGHMBP2):c.2238T>C (p.Phe746=)
NM_002180.3(IGHMBP2):c.2262C>T (p.Asp754=)
NM_002180.3(IGHMBP2):c.2266C>T (p.Leu756=)
NM_002180.3(IGHMBP2):c.2274C>G (p.Val758=)
NM_002180.3(IGHMBP2):c.2299C>T (p.Leu767=)
NM_002180.3(IGHMBP2):c.2316C>G (p.Ser772=)
NM_002180.3(IGHMBP2):c.2325G>C (p.Gly775=)
NM_002180.3(IGHMBP2):c.234T>C (p.Leu78=)
NM_002180.3(IGHMBP2):c.2373A>T (p.Ala791=)
NM_002180.3(IGHMBP2):c.2394G>C (p.Gly798=) rs757779436
NM_002180.3(IGHMBP2):c.2406A>G (p.Pro802=)
NM_002180.3(IGHMBP2):c.2409C>T (p.Ala803=)
NM_002180.3(IGHMBP2):c.2418G>A (p.Gln806=)
NM_002180.3(IGHMBP2):c.2427C>G (p.Pro809=) rs1165471451
NM_002180.3(IGHMBP2):c.2427C>T (p.Pro809=)
NM_002180.3(IGHMBP2):c.2433C>T (p.Thr811=) rs915018099
NM_002180.3(IGHMBP2):c.2442G>A (p.Gln814=)
NM_002180.3(IGHMBP2):c.2445A>G (p.Thr815=)
NM_002180.3(IGHMBP2):c.2448G>A (p.Glu816=) rs1005880496
NM_002180.3(IGHMBP2):c.2457C>G (p.Pro819=)
NM_002180.3(IGHMBP2):c.2466G>A (p.Gln822=)
NM_002180.3(IGHMBP2):c.2475A>T (p.Pro825=) rs1241285720
NM_002180.3(IGHMBP2):c.2478C>T (p.Asp826=)
NM_002180.3(IGHMBP2):c.2496G>C (p.Thr832=) rs756948501
NM_002180.3(IGHMBP2):c.2529C>T (p.Ser843=)
NM_002180.3(IGHMBP2):c.2532G>C (p.Ala844=)
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2538G>A (p.Gly846=)
NM_002180.3(IGHMBP2):c.2544C>T (p.Pro848=) rs746248057
NM_002180.3(IGHMBP2):c.2550C>T (p.Ser850=) rs764637193
NM_002180.3(IGHMBP2):c.2556G>A (p.Glu852=)
NM_002180.3(IGHMBP2):c.256+14G>A
NM_002180.3(IGHMBP2):c.256+17C>T
NM_002180.3(IGHMBP2):c.256+20G>A
NM_002180.3(IGHMBP2):c.256+7del
NM_002180.3(IGHMBP2):c.257-10G>C
NM_002180.3(IGHMBP2):c.257-11T>C
NM_002180.3(IGHMBP2):c.257-11T>G
NM_002180.3(IGHMBP2):c.257-17A>C
NM_002180.3(IGHMBP2):c.257-4G>A rs1484354967
NM_002180.3(IGHMBP2):c.257-5T>C rs2154006685
NM_002180.3(IGHMBP2):c.2601A>G (p.Lys867=)
NM_002180.3(IGHMBP2):c.2607C>A (p.Ala869=)
NM_002180.3(IGHMBP2):c.2607C>T (p.Ala869=)
NM_002180.3(IGHMBP2):c.2611+12A>G rs2154008964
NM_002180.3(IGHMBP2):c.2611+14dup
NM_002180.3(IGHMBP2):c.2611+17G>C
NM_002180.3(IGHMBP2):c.2611+17_2611+19del
NM_002180.3(IGHMBP2):c.2611+20C>T
NM_002180.3(IGHMBP2):c.2611+7C>T rs1343219004
NM_002180.3(IGHMBP2):c.2612-10T>C rs2154009107
NM_002180.3(IGHMBP2):c.2612-11G>A
NM_002180.3(IGHMBP2):c.2612-15dup
NM_002180.3(IGHMBP2):c.2612-20G>A
NM_002180.3(IGHMBP2):c.2612-4C>T rs1859624339
NM_002180.3(IGHMBP2):c.261T>C (p.Asp87=)
NM_002180.3(IGHMBP2):c.2637G>A (p.Thr879=)
NM_002180.3(IGHMBP2):c.264C>A (p.Ile88=)
NM_002180.3(IGHMBP2):c.264C>T (p.Ile88=)
NM_002180.3(IGHMBP2):c.270C>T (p.Gly90=)
NM_002180.3(IGHMBP2):c.2712C>T (p.Ala904=)
NM_002180.3(IGHMBP2):c.2736C>T (p.Phe912=)
NM_002180.3(IGHMBP2):c.273G>A (p.Leu91=)
NM_002180.3(IGHMBP2):c.2760C>T (p.Tyr920=)
NM_002180.3(IGHMBP2):c.2766C>G (p.Leu922=)
NM_002180.3(IGHMBP2):c.2781C>T (p.Pro927=)
NM_002180.3(IGHMBP2):c.2784+15C>A
NM_002180.3(IGHMBP2):c.2784+7C>G
NM_002180.3(IGHMBP2):c.2784+8G>A
NM_002180.3(IGHMBP2):c.2785-13G>C
NM_002180.3(IGHMBP2):c.2785-13G>T
NM_002180.3(IGHMBP2):c.2785-14T>G
NM_002180.3(IGHMBP2):c.2785-19A>G
NM_002180.3(IGHMBP2):c.2785-4C>G
NM_002180.3(IGHMBP2):c.2785-4C>T
NM_002180.3(IGHMBP2):c.2785-6C>T
NM_002180.3(IGHMBP2):c.2785-8C>T
NM_002180.3(IGHMBP2):c.2785-9C>T
NM_002180.3(IGHMBP2):c.2787C>T (p.Ile929=)
NM_002180.3(IGHMBP2):c.2790T>C (p.His930=)
NM_002180.3(IGHMBP2):c.2811C>T (p.Arg937=)
NM_002180.3(IGHMBP2):c.2817T>C (p.His939=)
NM_002180.3(IGHMBP2):c.2821C>A (p.Arg941=) rs557641477
NM_002180.3(IGHMBP2):c.2850C>T (p.Leu950=)
NM_002180.3(IGHMBP2):c.2856C>A (p.Ala952=) rs759627672
NM_002180.3(IGHMBP2):c.2859C>T (p.Gly953=)
NM_002180.3(IGHMBP2):c.285T>C (p.Ala95=)
NM_002180.3(IGHMBP2):c.2868C>G (p.Thr956=)
NM_002180.3(IGHMBP2):c.2868C>T (p.Thr956=) rs752024072
NM_002180.3(IGHMBP2):c.2880C>G (p.Ser960=)
NM_002180.3(IGHMBP2):c.2892C>G (p.Ala964=)
NM_002180.3(IGHMBP2):c.2901C>T (p.Ala967=) rs2154009296
NM_002180.3(IGHMBP2):c.2919G>A (p.Leu973=)
NM_002180.3(IGHMBP2):c.2937G>A (p.Glu979=)
NM_002180.3(IGHMBP2):c.2946C>T (p.Asn982=)
NM_002180.3(IGHMBP2):c.2964G>A (p.Arg988=)
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.318G>A (p.Leu106=)
NM_002180.3(IGHMBP2):c.324G>A (p.Arg108=) rs2154006693
NM_002180.3(IGHMBP2):c.36G>A (p.Lys12=)
NM_002180.3(IGHMBP2):c.39A>G (p.Gln13=)
NM_002180.3(IGHMBP2):c.408G>A (p.Leu136=)
NM_002180.3(IGHMBP2):c.435C>T (p.Tyr145=)
NM_002180.3(IGHMBP2):c.441A>C (p.Arg147=) rs1594418098
NM_002180.3(IGHMBP2):c.441A>T (p.Arg147=)
NM_002180.3(IGHMBP2):c.447A>G (p.Lys149=)
NM_002180.3(IGHMBP2):c.449+13G>A
NM_002180.3(IGHMBP2):c.449+17G>A
NM_002180.3(IGHMBP2):c.449+8G>C
NM_002180.3(IGHMBP2):c.450-17G>C
NM_002180.3(IGHMBP2):c.453C>A (p.Ala151=)
NM_002180.3(IGHMBP2):c.463C>T (p.Leu155=)
NM_002180.3(IGHMBP2):c.46C>T (p.Leu16=)
NM_002180.3(IGHMBP2):c.480T>C (p.Ser160=)
NM_002180.3(IGHMBP2):c.486A>G (p.Pro162=)
NM_002180.3(IGHMBP2):c.489C>T (p.Ala163=) rs1858295479
NM_002180.3(IGHMBP2):c.498C>G (p.Leu166=)
NM_002180.3(IGHMBP2):c.498C>T (p.Leu166=)
NM_002180.3(IGHMBP2):c.516C>A (p.Gly172=)
NM_002180.3(IGHMBP2):c.516C>T (p.Gly172=)
NM_002180.3(IGHMBP2):c.531T>C (p.Ser177=) rs779086573
NM_002180.3(IGHMBP2):c.547+11C>T
NM_002180.3(IGHMBP2):c.547+15G>A
NM_002180.3(IGHMBP2):c.547+19T>C
NM_002180.3(IGHMBP2):c.547+20C>G
NM_002180.3(IGHMBP2):c.547+20C>T
NM_002180.3(IGHMBP2):c.548-12C>T rs1858429648
NM_002180.3(IGHMBP2):c.548-13G>A
NM_002180.3(IGHMBP2):c.548-9C>T
NM_002180.3(IGHMBP2):c.552G>A (p.Pro184=) rs755103682
NM_002180.3(IGHMBP2):c.553C>T (p.Leu185=)
NM_002180.3(IGHMBP2):c.574C>T (p.Leu192=)
NM_002180.3(IGHMBP2):c.582C>A (p.Thr194=)
NM_002180.3(IGHMBP2):c.588G>A (p.Gln196=)
NM_002180.3(IGHMBP2):c.612G>A (p.Leu204=)
NM_002180.3(IGHMBP2):c.633C>T (p.Ile211=)
NM_002180.3(IGHMBP2):c.636C>A (p.Ile212=)
NM_002180.3(IGHMBP2):c.711+12A>C rs2154006952
NM_002180.3(IGHMBP2):c.711+15C>T rs963088351
NM_002180.3(IGHMBP2):c.711+16C>T
NM_002180.3(IGHMBP2):c.711+17A>G
NM_002180.3(IGHMBP2):c.712-10C>T
NM_002180.3(IGHMBP2):c.712-13T>C
NM_002180.3(IGHMBP2):c.712-18C>T
NM_002180.3(IGHMBP2):c.712-5C>T
NM_002180.3(IGHMBP2):c.712-9G>C
NM_002180.3(IGHMBP2):c.717G>A (p.Leu239=)
NM_002180.3(IGHMBP2):c.720C>T (p.Cys240=)
NM_002180.3(IGHMBP2):c.723C>T (p.Cys241=)
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.72G>A (p.Glu24=)
NM_002180.3(IGHMBP2):c.738C>T (p.Ile246=)
NM_002180.3(IGHMBP2):c.756G>A (p.Val252=)
NM_002180.3(IGHMBP2):c.759G>A (p.Glu253=)
NM_002180.3(IGHMBP2):c.792C>G (p.Arg264=)
NM_002180.3(IGHMBP2):c.813C>A (p.Leu271=) rs199619824
NM_002180.3(IGHMBP2):c.813C>G (p.Leu271=)
NM_002180.3(IGHMBP2):c.81G>A (p.Glu27=)
NM_002180.3(IGHMBP2):c.838C>T (p.Leu280=) rs2154007218
NM_002180.3(IGHMBP2):c.846G>A (p.Ala282=)
NM_002180.3(IGHMBP2):c.849T>C (p.Val283=)
NM_002180.3(IGHMBP2):c.855G>T (p.Ala285=)
NM_002180.3(IGHMBP2):c.86+19G>T
NM_002180.3(IGHMBP2):c.86+7G>A
NM_002180.3(IGHMBP2):c.86+9G>A
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.861C>T (p.Ser287=) rs564645287
NM_002180.3(IGHMBP2):c.867T>C (p.Ser289=)
NM_002180.3(IGHMBP2):c.87-11G>A
NM_002180.3(IGHMBP2):c.87-11G>C
NM_002180.3(IGHMBP2):c.87-12G>A
NM_002180.3(IGHMBP2):c.87-13G>C
NM_002180.3(IGHMBP2):c.87-14C>G
NM_002180.3(IGHMBP2):c.87-20C>A
NM_002180.3(IGHMBP2):c.87-9G>A
NM_002180.3(IGHMBP2):c.870C>G (p.Ala290=)
NM_002180.3(IGHMBP2):c.879T>C (p.Val293=)
NM_002180.3(IGHMBP2):c.900C>T (p.Ile300=)
NM_002180.3(IGHMBP2):c.912+10A>G
NM_002180.3(IGHMBP2):c.912+11T>C
NM_002180.3(IGHMBP2):c.912+13G>A
NM_002180.3(IGHMBP2):c.912+18T>C
NM_002180.3(IGHMBP2):c.913-10T>C
NM_002180.3(IGHMBP2):c.913-19C>G
NM_002180.3(IGHMBP2):c.913-6T>A rs2154007472
NM_002180.3(IGHMBP2):c.913-8C>G
NM_002180.3(IGHMBP2):c.915G>C (p.Val305=)
NM_002180.3(IGHMBP2):c.927G>A (p.Lys309=) rs1858724192
NM_002180.3(IGHMBP2):c.987A>G (p.Glu329=)
NM_002180.3(IGHMBP2):c.993G>A (p.Lys331=) rs1594431729
NM_002180.3(IGHMBP2):c.996G>A (p.Glu332=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.