ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 434
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.*425G>A rs144205786 0.00401
NM_002180.3(IGHMBP2):c.*466G>A rs542162905 0.00159
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002180.3(IGHMBP2):c.2837G>A (p.Arg946Gln) rs149824485 0.00108
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
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.*6C>T rs117995705 0.00049
NM_002180.3(IGHMBP2):c.2176G>A (p.Val726Met) rs143986510 0.00049
NM_002180.3(IGHMBP2):c.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002180.3(IGHMBP2):c.2872A>G (p.Asn958Asp) rs141873613 0.00037
NM_002180.3(IGHMBP2):c.1422C>A (p.Asp474Glu) rs61731907 0.00036
NM_002180.3(IGHMBP2):c.*692A>G rs188469352 0.00033
NM_002180.3(IGHMBP2):c.1125C>T (p.Asp375=) rs140296831 0.00029
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002180.3(IGHMBP2):c.1845T>A (p.Arg615=) rs370850999 0.00021
NM_002180.3(IGHMBP2):c.*117G>A rs745828352 0.00019
NM_002180.3(IGHMBP2):c.1844G>A (p.Arg615His) rs201640213 0.00019
NM_002180.3(IGHMBP2):c.1015C>T (p.Leu339Phe) rs149045005 0.00016
NM_002180.3(IGHMBP2):c.*465C>T rs770309885 0.00014
NM_002180.3(IGHMBP2):c.1194G>A (p.Ala398=) rs745534850 0.00014
NM_002180.3(IGHMBP2):c.1754A>G (p.Lys585Arg) rs146450269 0.00013
NM_002180.3(IGHMBP2):c.1784G>A (p.Arg595Gln) rs143766075 0.00012
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.*565G>A rs935838633 0.00010
NM_002180.3(IGHMBP2):c.1826C>A (p.Ala609Glu) rs776775995 0.00010
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val) rs375300165 0.00010
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.856C>T (p.Arg286Trp) rs751421003 0.00010
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) rs536962342 0.00009
NM_002180.3(IGHMBP2):c.679A>G (p.Ile227Val) rs779639460 0.00009
NM_002180.3(IGHMBP2):c.809G>A (p.Arg270His) rs756408576 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 0.00009
NM_002180.3(IGHMBP2):c.*666G>A rs576058010 0.00008
NM_002180.3(IGHMBP2):c.1236-10C>T rs778515935 0.00008
NM_002180.3(IGHMBP2):c.2188C>T (p.Arg730Trp) rs146409569 0.00008
NM_002180.3(IGHMBP2):c.2191G>A (p.Ala731Thr) rs139871647 0.00008
NM_002180.3(IGHMBP2):c.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002180.3(IGHMBP2):c.*754G>A rs374679092 0.00007
NM_002180.3(IGHMBP2):c.1108G>A (p.Asp370Asn) rs200007067 0.00007
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 0.00006
NM_002180.3(IGHMBP2):c.1913C>T (p.Thr638Met) rs747465472 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.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.284C>T (p.Ala95Val) rs372940951 0.00006
NM_002180.3(IGHMBP2):c.440G>A (p.Arg147Gln) rs138448914 0.00006
NM_002180.3(IGHMBP2):c.724G>A (p.Ala242Thr) rs746259825 0.00006
NM_002180.3(IGHMBP2):c.7T>G (p.Ser3Ala) rs751910797 0.00006
NM_002180.3(IGHMBP2):c.1795G>A (p.Val599Met) rs199770424 0.00005
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060 0.00005
NM_002180.3(IGHMBP2):c.265G>A (p.Val89Met) rs1384314579 0.00005
NM_002180.3(IGHMBP2):c.2852A>C (p.Tyr951Ser) rs541833561 0.00005
NM_002180.3(IGHMBP2):c.2857G>A (p.Gly953Ser) rs775514650 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002180.3(IGHMBP2):c.*172C>T rs3750978 0.00004
NM_002180.3(IGHMBP2):c.*529C>T rs1373174966 0.00004
NM_002180.3(IGHMBP2):c.128G>A (p.Arg43Gln) rs1021399630 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.1419G>A (p.Arg473=) rs750407517 0.00004
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys) rs201563456 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 0.00004
NM_002180.3(IGHMBP2):c.2317G>A (p.Gly773Arg) rs754559345 0.00004
NM_002180.3(IGHMBP2):c.2495C>T (p.Thr832Met) rs751046981 0.00004
NM_002180.3(IGHMBP2):c.2531C>T (p.Ala844Val) rs371546836 0.00004
NM_002180.3(IGHMBP2):c.2612-15G>A rs372230504 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.2713G>A (p.Gly905Ser) rs772387164 0.00004
NM_002180.3(IGHMBP2):c.2784+7C>T rs58094037 0.00004
NM_002180.3(IGHMBP2):c.2798G>T (p.Gly933Val) rs759609027 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_002180.3(IGHMBP2):c.742G>A (p.Val248Met) rs201112136 0.00004
NM_002180.3(IGHMBP2):c.89C>T (p.Ser30Phe) rs772945179 0.00004
NM_002180.3(IGHMBP2):c.*379G>A rs533355737 0.00003
NM_002180.3(IGHMBP2):c.*415G>A rs886048609 0.00003
NM_002180.3(IGHMBP2):c.1451C>T (p.Thr484Met) rs1170552394 0.00003
NM_002180.3(IGHMBP2):c.1723G>C (p.Val575Leu) rs748775914 0.00003
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 0.00003
NM_002180.3(IGHMBP2):c.1814G>A (p.Arg605Gln) rs141107419 0.00003
NM_002180.3(IGHMBP2):c.1933G>A (p.Asp645Asn) rs775138577 0.00003
NM_002180.3(IGHMBP2):c.193G>T (p.Val65Phe) rs920864493 0.00003
NM_002180.3(IGHMBP2):c.1966T>C (p.Ser656Pro) rs755082503 0.00003
NM_002180.3(IGHMBP2):c.2035C>T (p.Arg679Trp) rs371157210 0.00003
NM_002180.3(IGHMBP2):c.204G>T (p.Glu68Asp) rs1470672532 0.00003
NM_002180.3(IGHMBP2):c.2287G>A (p.Glu763Lys) rs768670979 0.00003
NM_002180.3(IGHMBP2):c.4G>T (p.Ala2Ser) rs778232785 0.00003
NM_002180.3(IGHMBP2):c.781C>T (p.Arg261Trp) rs141836800 0.00003
NM_002180.3(IGHMBP2):c.808C>T (p.Arg270Cys) rs201054207 0.00003
NM_002180.3(IGHMBP2):c.815T>C (p.Leu272Pro) rs773582904 0.00003
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser) rs1004816448 0.00002
NM_002180.3(IGHMBP2):c.1316C>T (p.Thr439Met) rs373649545 0.00002
NM_002180.3(IGHMBP2):c.1342A>G (p.Ile448Val) rs139000973 0.00002
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) rs771485988 0.00002
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) rs776158939 0.00002
NM_002180.3(IGHMBP2):c.1766G>T (p.Gly589Val) rs764900781 0.00002
NM_002180.3(IGHMBP2):c.1783C>T (p.Arg595Trp) rs746014167 0.00002
NM_002180.3(IGHMBP2):c.1843C>T (p.Arg615Cys) rs1448152495 0.00002
NM_002180.3(IGHMBP2):c.1952A>G (p.Tyr651Cys) rs761885813 0.00002
NM_002180.3(IGHMBP2):c.2185T>C (p.Phe729Leu) rs763014565 0.00002
NM_002180.3(IGHMBP2):c.2189G>A (p.Arg730Gln) rs765230277 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 0.00002
NM_002180.3(IGHMBP2):c.2398G>A (p.Gly800Ser) rs751122806 0.00002
NM_002180.3(IGHMBP2):c.242A>G (p.Asn81Ser) rs757006949 0.00002
NM_002180.3(IGHMBP2):c.2456C>T (p.Pro819Leu) rs200072932 0.00002
NM_002180.3(IGHMBP2):c.2648T>C (p.Phe883Ser) rs774483778 0.00002
NM_002180.3(IGHMBP2):c.2756G>C (p.Arg919Pro) rs148605058 0.00002
NM_002180.3(IGHMBP2):c.547C>T (p.His183Tyr) rs548256623 0.00002
NM_002180.3(IGHMBP2):c.581C>T (p.Thr194Ile) rs375694606 0.00002
NM_002180.3(IGHMBP2):c.622G>A (p.Glu208Lys) rs374952782 0.00002
NM_002180.3(IGHMBP2):c.665C>T (p.Thr222Met) rs745416724 0.00002
NM_002180.3(IGHMBP2):c.736A>G (p.Ile246Val) rs377678376 0.00002
NM_002180.3(IGHMBP2):c.963T>C (p.Asn321=) rs771900045 0.00002
NM_002180.3(IGHMBP2):c.*23C>T rs931118021 0.00001
NM_002180.3(IGHMBP2):c.*862T>C rs182410950 0.00001
NM_002180.3(IGHMBP2):c.1006G>A (p.Ala336Thr) rs145076368 0.00001
NM_002180.3(IGHMBP2):c.1022G>A (p.Ser341Asn) rs1022216138 0.00001
NM_002180.3(IGHMBP2):c.1036A>G (p.Asn346Asp) rs567322475 0.00001
NM_002180.3(IGHMBP2):c.1051A>G (p.Thr351Ala) rs1033402228 0.00001
NM_002180.3(IGHMBP2):c.1088T>C (p.Leu363Ser) rs1398038802 0.00001
NM_002180.3(IGHMBP2):c.1096G>A (p.Glu366Lys) rs759014082 0.00001
NM_002180.3(IGHMBP2):c.1106T>A (p.Phe369Tyr) rs756791529 0.00001
NM_002180.3(IGHMBP2):c.1111G>A (p.Val371Met) rs770912338 0.00001
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1154G>C (p.Cys385Ser) rs372477029 0.00001
NM_002180.3(IGHMBP2):c.1241C>T (p.Ala414Val) rs1465465295 0.00001
NM_002180.3(IGHMBP2):c.1263C>A (p.Ser421Arg) rs749343954 0.00001
NM_002180.3(IGHMBP2):c.1277T>G (p.Leu426Arg) rs1555247218 0.00001
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys) rs751549678 0.00001
NM_002180.3(IGHMBP2):c.1328G>A (p.Arg443His) rs757304363 0.00001
NM_002180.3(IGHMBP2):c.1334A>G (p.His445Arg) rs571142182 0.00001
NM_002180.3(IGHMBP2):c.1338G>T (p.Gln446His) rs149628807 0.00001
NM_002180.3(IGHMBP2):c.1348C>T (p.Arg450Cys) rs374363750 0.00001
NM_002180.3(IGHMBP2):c.1373T>G (p.Leu458Arg) rs751446350 0.00001
NM_002180.3(IGHMBP2):c.1399G>C (p.Val467Leu) rs755120725 0.00001
NM_002180.3(IGHMBP2):c.1442C>G (p.Thr481Arg) rs1555247334 0.00001
NM_002180.3(IGHMBP2):c.1537+17A>G rs1164525405 0.00001
NM_002180.3(IGHMBP2):c.1537+88G>A rs1555247438 0.00001
NM_002180.3(IGHMBP2):c.1652G>T (p.Ser551Ile) rs768685672 0.00001
NM_002180.3(IGHMBP2):c.166C>T (p.Arg56Cys) rs201649839 0.00001
NM_002180.3(IGHMBP2):c.167G>A (p.Arg56His) rs571887680 0.00001
NM_002180.3(IGHMBP2):c.1756+5G>A rs1352994155 0.00001
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His) rs151079750 0.00001
NM_002180.3(IGHMBP2):c.1810G>A (p.Ala604Thr) rs1240484547 0.00001
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.1826C>T (p.Ala609Val) rs776775995 0.00001
NM_002180.3(IGHMBP2):c.1833C>G (p.Ile611Met) rs752495359 0.00001
NM_002180.3(IGHMBP2):c.1856A>G (p.Asn619Ser) rs943195178 0.00001
NM_002180.3(IGHMBP2):c.185G>A (p.Arg62Gln) rs774522176 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.1888T>C (p.Phe630Leu) rs1264599893 0.00001
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr) rs375023053 0.00001
NM_002180.3(IGHMBP2):c.1984G>A (p.Ala662Thr) rs370166700 0.00001
NM_002180.3(IGHMBP2):c.1990A>C (p.Thr664Pro) rs1310268610 0.00001
NM_002180.3(IGHMBP2):c.1995G>C (p.Lys665Asn) rs1317117261 0.00001
NM_002180.3(IGHMBP2):c.2002G>A (p.Gly668Arg) rs1566446312 0.00001
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886 0.00001
NM_002180.3(IGHMBP2):c.2036G>A (p.Arg679Gln) rs767422655 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln) rs943141487 0.00001
NM_002180.3(IGHMBP2):c.2097G>T (p.Gly699=) rs372382180 0.00001
NM_002180.3(IGHMBP2):c.2123C>G (p.Ser708Cys) rs1042372226 0.00001
NM_002180.3(IGHMBP2):c.212G>T (p.Arg71Leu) rs766757770 0.00001
NM_002180.3(IGHMBP2):c.2155G>A (p.Gly719Arg) rs1191974842 0.00001
NM_002180.3(IGHMBP2):c.2158G>A (p.Val720Met) rs1462234845 0.00001
NM_002180.3(IGHMBP2):c.2173G>A (p.Gly725Ser) rs771844457 0.00001
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921 0.00001
NM_002180.3(IGHMBP2):c.224C>T (p.Ala75Val) rs1444267409 0.00001
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn) rs760946663 0.00001
NM_002180.3(IGHMBP2):c.2312G>T (p.Ser771Ile) rs1317637789 0.00001
NM_002180.3(IGHMBP2):c.2359C>T (p.Pro787Ser) rs543060051 0.00001
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00001
NM_002180.3(IGHMBP2):c.2363G>C (p.Arg788Pro) rs769685389 0.00001
NM_002180.3(IGHMBP2):c.2365C>A (p.Pro789Thr) rs761789207 0.00001
NM_002180.3(IGHMBP2):c.2438C>T (p.Ala813Val) rs779854653 0.00001
NM_002180.3(IGHMBP2):c.2460_2474dup (p.Glu821_Pro825dup) rs1267983821 0.00001
NM_002180.3(IGHMBP2):c.2542C>T (p.Pro848Ser) rs1131691275 0.00001
NM_002180.3(IGHMBP2):c.2561A>G (p.Gln854Arg) rs1300949116 0.00001
NM_002180.3(IGHMBP2):c.2649T>G (p.Phe883Leu) rs772539742 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.2677G>A (p.Ala893Thr) rs149294713 0.00001
NM_002180.3(IGHMBP2):c.2707A>G (p.Thr903Ala) rs766526224 0.00001
NM_002180.3(IGHMBP2):c.2716G>A (p.Val906Ile) rs748491290 0.00001
NM_002180.3(IGHMBP2):c.2752C>T (p.Arg918Cys) rs199962477 0.00001
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167 0.00001
NM_002180.3(IGHMBP2):c.2812G>A (p.Ala938Thr) rs763336691 0.00001
NM_002180.3(IGHMBP2):c.2821C>T (p.Arg941Trp) rs557641477 0.00001
NM_002180.3(IGHMBP2):c.2822G>A (p.Arg941Gln) rs373408947 0.00001
NM_002180.3(IGHMBP2):c.286A>G (p.Asn96Asp) rs760004229 0.00001
NM_002180.3(IGHMBP2):c.2875G>A (p.Gly959Arg) rs199574747 0.00001
NM_002180.3(IGHMBP2):c.2897G>A (p.Arg966Lys) rs1361120114 0.00001
NM_002180.3(IGHMBP2):c.2912G>A (p.Arg971Lys) rs1471799706 0.00001
NM_002180.3(IGHMBP2):c.2978C>T (p.Thr993Met) rs777591006 0.00001
NM_002180.3(IGHMBP2):c.322C>T (p.Arg108Trp) rs750026880 0.00001
NM_002180.3(IGHMBP2):c.350C>T (p.Ala117Val) rs1034569953 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.479C>A (p.Ser160Tyr) rs767665196 0.00001
NM_002180.3(IGHMBP2):c.482G>T (p.Gly161Val) rs750539690 0.00001
NM_002180.3(IGHMBP2):c.500T>C (p.Ile167Thr) rs754051200 0.00001
NM_002180.3(IGHMBP2):c.531T>G (p.Ser177Arg) rs779086573 0.00001
NM_002180.3(IGHMBP2):c.547+9T>G rs886048603 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.607G>A (p.Ala203Thr) rs768493454 0.00001
NM_002180.3(IGHMBP2):c.696G>T (p.Val232=) rs748899869 0.00001
NM_002180.3(IGHMBP2):c.714T>C (p.Val238=) rs755582766 0.00001
NM_002180.3(IGHMBP2):c.739G>A (p.Ala247Thr) rs774700020 0.00001
NM_002180.3(IGHMBP2):c.760C>T (p.Arg254Cys) rs1033094612 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002180.3(IGHMBP2):c.83G>A (p.Arg28His) rs892885630 0.00001
NM_002180.3(IGHMBP2):c.860G>A (p.Ser287Asn) rs899517052 0.00001
NM_002180.3(IGHMBP2):c.862G>A (p.Asp288Asn) rs768803582 0.00001
NM_002180.3(IGHMBP2):c.877G>A (p.Val293Ile) rs761171176 0.00001
NM_002180.3(IGHMBP2):c.919A>C (p.Asn307His) rs758520241 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.929C>G (p.Thr310Ser) rs555235493 0.00001
NM_002180.3(IGHMBP2):c.947A>G (p.Lys316Arg) rs1323805346 0.00001
NM_002180.3(IGHMBP2):c.986A>T (p.Glu329Val) rs201726883 0.00001
NC_000011.10:g.(?_68908125)_(68908651_?)del
NM_002180.2(IGHMBP2):c.57_58inv (p.Glu20Lys)
NM_002180.3(IGHMBP2):c.*108G>A rs1020096647
NM_002180.3(IGHMBP2):c.*226G>C rs1447465473
NM_002180.3(IGHMBP2):c.*242C>T rs543587344
NM_002180.3(IGHMBP2):c.*648G>T rs139118510
NM_002180.3(IGHMBP2):c.*698C>A rs1859711487
NM_002180.3(IGHMBP2):c.*788C>T rs886048610
NM_002180.3(IGHMBP2):c.*797T>G rs898341326
NM_002180.3(IGHMBP2):c.1000G>A (p.Glu334Lys) rs1594431740
NM_002180.3(IGHMBP2):c.103A>C (p.Ile35Leu) rs199586231
NM_002180.3(IGHMBP2):c.1041_1043del (p.Val348del) rs1858730437
NM_002180.3(IGHMBP2):c.1058C>G (p.Thr353Arg) rs1368446033
NM_002180.3(IGHMBP2):c.1067C>T (p.Ser356Phe) rs2154008237
NM_002180.3(IGHMBP2):c.1079C>G (p.Pro360Arg) rs1768499175
NM_002180.3(IGHMBP2):c.1117G>T (p.Val373Phe) rs2154008241
NM_002180.3(IGHMBP2):c.1136A>G (p.Gln379Arg) rs2154008248
NM_002180.3(IGHMBP2):c.1139C>T (p.Ala380Val) rs1859182151
NM_002180.3(IGHMBP2):c.1160T>A (p.Ile387Asn)
NM_002180.3(IGHMBP2):c.1208A>G (p.Gln403Arg) rs1555246489
NM_002180.3(IGHMBP2):c.1214C>G (p.Pro405Arg)
NM_002180.3(IGHMBP2):c.1235+600_1235+601insCTGGAGCCCTGATGCG
NM_002180.3(IGHMBP2):c.1244T>A (p.Leu415Gln)
NM_002180.3(IGHMBP2):c.1279G>C (p.Ala427Pro) rs1594451196
NM_002180.3(IGHMBP2):c.1291G>A (p.Gly431Ser)
NM_002180.3(IGHMBP2):c.1294_1295delinsTT (p.Ala432Leu) rs1859389487
NM_002180.3(IGHMBP2):c.1301T>G (p.Val434Gly) rs1464006744
NM_002180.3(IGHMBP2):c.1323G>C (p.Gln441His) rs2154008602
NM_002180.3(IGHMBP2):c.1328G>C (p.Arg443Pro)
NM_002180.3(IGHMBP2):c.1360G>A (p.Asp454Asn) rs1859394402
NM_002180.3(IGHMBP2):c.1363A>C (p.Thr455Pro) rs775232759
NM_002180.3(IGHMBP2):c.1372C>T (p.Leu458Phe)
NM_002180.3(IGHMBP2):c.1399G>A (p.Val467Met) rs755120725
NM_002180.3(IGHMBP2):c.1418+4_1418+5del
NM_002180.3(IGHMBP2):c.1418+5G>A
NM_002180.3(IGHMBP2):c.1418G>A (p.Arg473Lys) rs1594451539
NM_002180.3(IGHMBP2):c.1432G>A (p.Val478Met) rs2154008642
NM_002180.3(IGHMBP2):c.1460C>G (p.Pro487Arg)
NM_002180.3(IGHMBP2):c.1471G>A (p.Val491Met)
NM_002180.3(IGHMBP2):c.1489G>A (p.Gly497Arg) rs764111837
NM_002180.3(IGHMBP2):c.1489G>T (p.Gly497Trp) rs764111837
NM_002180.3(IGHMBP2):c.1528G>A (p.Gly510Arg) rs1049595127
NM_002180.3(IGHMBP2):c.1529G>C (p.Gly510Ala) rs772984773
NM_002180.3(IGHMBP2):c.1531A>T (p.Asn511Tyr) rs1859418981
NM_002180.3(IGHMBP2):c.154G>A (p.Val52Ile) rs926718557
NM_002180.3(IGHMBP2):c.154G>C (p.Val52Leu) rs926718557
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe) rs1178878248
NM_002180.3(IGHMBP2):c.1633G>T (p.Val545Leu) rs1859480727
NM_002180.3(IGHMBP2):c.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.3(IGHMBP2):c.1664G>A (p.Arg555Lys) rs2154008764
NM_002180.3(IGHMBP2):c.1669C>A (p.Pro557Thr) rs7122089
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.166C>A (p.Arg56Ser) rs201649839
NM_002180.3(IGHMBP2):c.1681A>G (p.Ile561Val)
NM_002180.3(IGHMBP2):c.1684A>G (p.Lys562Glu) rs1566445093
NM_002180.3(IGHMBP2):c.1699T>G (p.Phe567Val) rs1859483901
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
NM_002180.3(IGHMBP2):c.1718A>G (p.Glu573Gly) rs1566445153
NM_002180.3(IGHMBP2):c.1720G>A (p.Ala574Thr) rs1378524388
NM_002180.3(IGHMBP2):c.1736T>G (p.Phe579Cys) rs1566445212
NM_002180.3(IGHMBP2):c.173G>C (p.Gly58Ala) rs2154006539
NM_002180.3(IGHMBP2):c.1762G>A (p.Val588Ile) rs1566445855
NM_002180.3(IGHMBP2):c.1781A>C (p.Asp594Ala) rs777841793
NM_002180.3(IGHMBP2):c.1805C>T (p.Thr602Ile) rs779182888
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.1822G>A (p.Val608Met) rs573382473
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly) rs768631087
NM_002180.3(IGHMBP2):c.184C>T (p.Arg62Trp) rs768631087
NM_002180.3(IGHMBP2):c.1859A>G (p.His620Arg)
NM_002180.3(IGHMBP2):c.1890C>G (p.Phe630Leu)
NM_002180.3(IGHMBP2):c.1892C>G (p.Thr631Arg)
NM_002180.3(IGHMBP2):c.1898A>G (p.His633Arg) rs1594455594
NM_002180.3(IGHMBP2):c.1905A>G (p.Glu635=)
NM_002180.3(IGHMBP2):c.1924T>C (p.Tyr642His) rs1413846126
NM_002180.3(IGHMBP2):c.193G>A (p.Val65Ile)
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) rs1859530717
NM_002180.3(IGHMBP2):c.1964A>G (p.Asn655Ser) rs753926352
NM_002180.3(IGHMBP2):c.200T>C (p.Phe67Ser) rs1555242247
NM_002180.3(IGHMBP2):c.2012C>G (p.Thr671Arg) rs377743886
NM_002180.3(IGHMBP2):c.2043G>C (p.Glu681Asp) rs1859535346
NM_002180.3(IGHMBP2):c.2054A>T (p.Glu685Val) rs1859535801
NM_002180.3(IGHMBP2):c.2056G>A (p.Ala686Thr) rs1859535898
NM_002180.3(IGHMBP2):c.2116G>A (p.Ala706Thr) rs746334377
NM_002180.3(IGHMBP2):c.2129C>T (p.Pro710Leu) rs1594456094
NM_002180.3(IGHMBP2):c.2132G>C (p.Ser711Thr)
NM_002180.3(IGHMBP2):c.2133C>G (p.Ser711Arg) rs879254320
NM_002180.3(IGHMBP2):c.2152G>C (p.Glu718Gln)
NM_002180.3(IGHMBP2):c.2183A>G (p.His728Arg)
NM_002180.3(IGHMBP2):c.2183A>T (p.His728Leu) rs536678728
NM_002180.3(IGHMBP2):c.2205G>C (p.Glu735Asp) rs1594456265
NM_002180.3(IGHMBP2):c.2209A>G (p.Met737Val) rs1042285874
NM_002180.3(IGHMBP2):c.2222A>G (p.Lys741Arg) rs1859546493
NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=) rs139237340
NM_002180.3(IGHMBP2):c.2240C>G (p.Pro747Arg)
NM_002180.3(IGHMBP2):c.2265G>T (p.Arg755Ser)
NM_002180.3(IGHMBP2):c.2270G>A (p.Arg757Gln)
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.3(IGHMBP2):c.229G>C (p.Ala77Pro) rs778774954
NM_002180.3(IGHMBP2):c.2349C>T (p.Ser783=)
NM_002180.3(IGHMBP2):c.2374G>A (p.Ala792Thr) rs766802836
NM_002180.3(IGHMBP2):c.2383C>T (p.Pro795Ser) rs760161861
NM_002180.3(IGHMBP2):c.2386C>G (p.Pro796Ala) rs1438075631
NM_002180.3(IGHMBP2):c.2392G>A (p.Gly798Arg)
NM_002180.3(IGHMBP2):c.2425C>T (p.Pro809Ser) rs1464851091
NM_002180.3(IGHMBP2):c.2437G>A (p.Ala813Thr)
NM_002180.3(IGHMBP2):c.2438C>A (p.Ala813Glu) rs779854653
NM_002180.3(IGHMBP2):c.2446G>C (p.Glu816Gln) rs950453484
NM_002180.3(IGHMBP2):c.2452C>A (p.Pro818Thr)
NM_002180.3(IGHMBP2):c.250A>G (p.Thr84Ala) rs2154006546
NM_002180.3(IGHMBP2):c.2513T>G (p.Leu838Arg) rs755843076
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.254C>T (p.Ser85Phe)
NM_002180.3(IGHMBP2):c.2558A>G (p.Gln853Arg)
NM_002180.3(IGHMBP2):c.257G>A (p.Gly86Asp) rs1594417834
NM_002180.3(IGHMBP2):c.2592G>T (p.Lys864Asn) rs766051417
NM_002180.3(IGHMBP2):c.2599A>G (p.Lys867Glu) rs753639706
NM_002180.3(IGHMBP2):c.2606_2611dup (p.Ala869_Lys870dup) rs2154008959
NM_002180.3(IGHMBP2):c.2611G>A (p.Gly871Arg) rs1859576991
NM_002180.3(IGHMBP2):c.2617C>G (p.Pro873Ala) rs914944175
NM_002180.3(IGHMBP2):c.2636C>T (p.Thr879Met) rs17612126
NM_002180.3(IGHMBP2):c.2653G>A (p.Ala885Thr) rs1386297763
NM_002180.3(IGHMBP2):c.2683A>G (p.Asn895Asp) rs886048607
NM_002180.3(IGHMBP2):c.2704T>C (p.Cys902Arg) rs1064796817
NM_002180.3(IGHMBP2):c.2711C>T (p.Ala904Val)
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2755C>T (p.Arg919Cys) rs145945230
NM_002180.3(IGHMBP2):c.2756G>A (p.Arg919His) rs148605058
NM_002180.3(IGHMBP2):c.2771A>C (p.His924Pro) rs1566448570
NM_002180.3(IGHMBP2):c.2785-3C>G rs1859669997
NM_002180.3(IGHMBP2):c.2785-3C>T rs1859669997
NM_002180.3(IGHMBP2):c.2785-7_2785-4del
NM_002180.3(IGHMBP2):c.2788C>T (p.His930Tyr)
NM_002180.3(IGHMBP2):c.2789A>G (p.His930Arg) rs1594459783
NM_002180.3(IGHMBP2):c.2809C>T (p.Arg937Cys)
NM_002180.3(IGHMBP2):c.2816A>G (p.His939Arg) rs751847212
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.3(IGHMBP2):c.2829A>C (p.Arg943Ser) rs1859672618
NM_002180.3(IGHMBP2):c.2840A>G (p.Glu947Gly)
NM_002180.3(IGHMBP2):c.2852A>G (p.Tyr951Cys)
NM_002180.3(IGHMBP2):c.2857G>T (p.Gly953Cys) rs775514650
NM_002180.3(IGHMBP2):c.2858G>T (p.Gly953Val) rs1859674357
NM_002180.3(IGHMBP2):c.2861G>A (p.Ser954Asn) rs2154009288
NM_002180.3(IGHMBP2):c.2863G>A (p.Gly955Arg)
NM_002180.3(IGHMBP2):c.2863G>C (p.Gly955Arg) rs764208218
NM_002180.3(IGHMBP2):c.2894A>G (p.Lys965Arg)
NM_002180.3(IGHMBP2):c.292G>C (p.Gly98Arg) rs1858277137
NM_002180.3(IGHMBP2):c.2946C>G (p.Asn982Lys) rs865849237
NM_002180.3(IGHMBP2):c.2954C>G (p.Thr985Ser) rs2154009308
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.3(IGHMBP2):c.2963G>A (p.Arg988Lys)
NM_002180.3(IGHMBP2):c.2975G>A (p.Gly992Glu) rs886048608
NM_002180.3(IGHMBP2):c.2975G>T (p.Gly992Val) rs886048608
NM_002180.3(IGHMBP2):c.2977A>C (p.Thr993Pro) rs1271968797
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.314T>C (p.Ile105Thr) rs1858278685
NM_002180.3(IGHMBP2):c.320C>G (p.Thr107Ser) rs767244307
NM_002180.3(IGHMBP2):c.333G>C (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.333G>T (p.Gln111His) rs1858279805
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) rs1858280736
NM_002180.3(IGHMBP2):c.361T>A (p.Ser121Thr) rs1858281719
NM_002180.3(IGHMBP2):c.364C>A (p.His122Asn)
NM_002180.3(IGHMBP2):c.367G>A (p.Asp123Asn) rs1004055119
NM_002180.3(IGHMBP2):c.367G>C (p.Asp123His) rs1004055119
NM_002180.3(IGHMBP2):c.375G>T (p.Gln125His)
NM_002180.3(IGHMBP2):c.464T>C (p.Leu155Pro) rs1594418365
NM_002180.3(IGHMBP2):c.46C>G (p.Leu16Val)
NM_002180.3(IGHMBP2):c.470A>T (p.Lys157Met) rs1858294631
NM_002180.3(IGHMBP2):c.521C>T (p.Ser174Phe)
NM_002180.3(IGHMBP2):c.532C>G (p.Pro178Ala) rs1566425176
NM_002180.3(IGHMBP2):c.532C>T (p.Pro178Ser) rs1566425176
NM_002180.3(IGHMBP2):c.538A>G (p.Ser180Gly)
NM_002180.3(IGHMBP2):c.551C>G (p.Pro184Arg)
NM_002180.3(IGHMBP2):c.588G>C (p.Gln196His) rs1280728139
NM_002180.3(IGHMBP2):c.598G>A (p.Val200Ile) rs369509318
NM_002180.3(IGHMBP2):c.613T>C (p.Ser205Pro)
NM_002180.3(IGHMBP2):c.617A>G (p.Gln206Arg)
NM_002180.3(IGHMBP2):c.641G>C (p.Gly214Ala) rs1566427330
NM_002180.3(IGHMBP2):c.644C>G (p.Pro215Arg) rs752135303
NM_002180.3(IGHMBP2):c.64G>T (p.Asp22Tyr) rs771853806
NM_002180.3(IGHMBP2):c.659A>G (p.Lys220Arg) rs1555243301
NM_002180.3(IGHMBP2):c.660A>C (p.Lys220Asn) rs863224881
NM_002180.3(IGHMBP2):c.660A>T (p.Lys220Asn)
NM_002180.3(IGHMBP2):c.664A>G (p.Thr222Ala) rs1858437723
NM_002180.3(IGHMBP2):c.678G>C (p.Glu226Asp) rs1594422735
NM_002180.3(IGHMBP2):c.686T>G (p.Leu229Arg) rs2154006946
NM_002180.3(IGHMBP2):c.70G>A (p.Glu24Lys)
NM_002180.3(IGHMBP2):c.715C>G (p.Leu239Val) rs1858583764
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.728C>G (p.Pro243Arg) rs1858584931
NM_002180.3(IGHMBP2):c.730T>G (p.Ser244Ala) rs775600808
NM_002180.3(IGHMBP2):c.734A>C (p.Asn245Thr) rs1555243999
NM_002180.3(IGHMBP2):c.734A>G (p.Asn245Ser) rs1555243999
NM_002180.3(IGHMBP2):c.745G>A (p.Asp249Asn)
NM_002180.3(IGHMBP2):c.746A>G (p.Asp249Gly)
NM_002180.3(IGHMBP2):c.754G>A (p.Val252Met) rs1284064613
NM_002180.3(IGHMBP2):c.772T>C (p.Cys258Arg) rs1566430083
NM_002180.3(IGHMBP2):c.844G>A (p.Ala282Thr) rs2154007219
NM_002180.3(IGHMBP2):c.847G>A (p.Val283Ile) rs2154007221
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.884A>G (p.Asp295Gly) rs759987473
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) rs375554721
NM_002180.3(IGHMBP2):c.893A>G (p.Lys298Arg) rs763867470
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
NM_002180.3(IGHMBP2):c.912+4G>A rs758392980
NM_002180.3(IGHMBP2):c.912+4G>C
NM_002180.3(IGHMBP2):c.922A>C (p.Lys308Gln) rs201177129
NM_002180.3(IGHMBP2):c.926A>T (p.Lys309Met)
NM_002180.3(IGHMBP2):c.927G>T (p.Lys309Asn) rs1858724192
NM_002180.3(IGHMBP2):c.928A>T (p.Thr310Ser) rs747287368
NM_002180.3(IGHMBP2):c.965A>C (p.Glu322Ala) rs1858726463
NM_002180.3(IGHMBP2):c.998G>A (p.Arg333Lys) rs759353094

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.