ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance for Inborn genetic diseases

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Total variants: 115
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HGVS dbSNP gnomAD frequency
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.767C>G (p.Ala256Gly) rs148095551 0.00065
NM_002180.3(IGHMBP2):c.2360C>T (p.Pro787Leu) rs141594765 0.00053
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.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.1844G>A (p.Arg615His) rs201640213 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.2608A>G (p.Lys870Glu) rs374632016 0.00013
NM_002180.3(IGHMBP2):c.2375C>T (p.Ala792Val) rs375300165 0.00010
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.2960G>A (p.Arg987Gln) rs199863781 0.00009
NM_002180.3(IGHMBP2):c.451G>A (p.Ala151Thr) rs536962342 0.00009
NM_002180.3(IGHMBP2):c.901G>A (p.Asp301Asn) rs139635469 0.00009
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.1108G>A (p.Asp370Asn) rs200007067 0.00007
NM_002180.3(IGHMBP2):c.2090C>T (p.Pro697Leu) rs77807333 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.1236-5C>T rs191443556 0.00005
NM_002180.3(IGHMBP2):c.2554G>C (p.Glu852Gln) rs202143060 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.2869A>G (p.Lys957Glu) rs370985388 0.00005
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.2646C>A (p.Asp882Glu) rs372629862 0.00004
NM_002180.3(IGHMBP2):c.389G>A (p.Arg130Gln) rs150123428 0.00004
NM_002180.3(IGHMBP2):c.1236-6G>A rs201538340 0.00003
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 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.4G>T (p.Ala2Ser) rs778232785 0.00003
NM_002180.3(IGHMBP2):c.1213C>T (p.Pro405Ser) rs1004816448 0.00002
NM_002180.3(IGHMBP2):c.1423C>T (p.Leu475Phe) rs776158939 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.736A>G (p.Ile246Val) rs377678376 0.00002
NM_002180.3(IGHMBP2):c.1148C>T (p.Ala383Val) rs876661217 0.00001
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg) rs1347461335 0.00001
NM_002180.3(IGHMBP2):c.181G>C (p.Gly61Arg) rs1057518943 0.00001
NM_002180.3(IGHMBP2):c.1963A>T (p.Asn655Tyr) rs375023053 0.00001
NM_002180.3(IGHMBP2):c.2012C>T (p.Thr671Met) rs377743886 0.00001
NM_002180.3(IGHMBP2):c.2081G>A (p.Arg694Gln) rs943141487 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002180.3(IGHMBP2):c.2308G>A (p.Asp770Asn) rs760946663 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.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.596C>T (p.Ala199Val) rs780802298 0.00001
NM_002180.3(IGHMBP2):c.727C>T (p.Pro243Ser) rs746910953 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.919A>C (p.Asn307His) rs758520241 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.1236-6G>C rs201538340
NM_002180.3(IGHMBP2):c.1337A>C (p.Gln446Pro)
NM_002180.3(IGHMBP2):c.1345A>G (p.Met449Val)
NM_002180.3(IGHMBP2):c.1418+4A>G
NM_002180.3(IGHMBP2):c.158C>T (p.Ser53Phe) rs1178878248
NM_002180.3(IGHMBP2):c.1633G>A (p.Val545Met)
NM_002180.3(IGHMBP2):c.1709G>A (p.Arg570Gln)
NM_002180.3(IGHMBP2):c.1771C>T (p.Leu591Phe)
NM_002180.3(IGHMBP2):c.184C>G (p.Arg62Gly) rs768631087
NM_002180.3(IGHMBP2):c.190C>G (p.Leu64Val)
NM_002180.3(IGHMBP2):c.1910G>A (p.Arg637His)
NM_002180.3(IGHMBP2):c.2045G>T (p.Gly682Val)
NM_002180.3(IGHMBP2):c.2058_2063del (p.Ala687_Ala688del)
NM_002180.3(IGHMBP2):c.2111C>T (p.Ser704Phe)
NM_002180.3(IGHMBP2):c.2210T>C (p.Met737Thr)
NM_002180.3(IGHMBP2):c.2269C>T (p.Arg757Trp)
NM_002180.3(IGHMBP2):c.2295C>G (p.His765Gln) rs149185954
NM_002180.3(IGHMBP2):c.2348G>A (p.Ser783Asn)
NM_002180.3(IGHMBP2):c.2387C>T (p.Pro796Leu)
NM_002180.3(IGHMBP2):c.2407G>A (p.Ala803Thr)
NM_002180.3(IGHMBP2):c.241A>G (p.Asn81Asp)
NM_002180.3(IGHMBP2):c.2513T>C (p.Leu838Pro)
NM_002180.3(IGHMBP2):c.2545G>C (p.Ala849Pro)
NM_002180.3(IGHMBP2):c.2617C>T (p.Pro873Ser)
NM_002180.3(IGHMBP2):c.2618C>G (p.Pro873Arg)
NM_002180.3(IGHMBP2):c.2713G>C (p.Gly905Arg)
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.2769C>A (p.Ser923Arg)
NM_002180.3(IGHMBP2):c.2818G>A (p.Ala940Thr) rs757839224
NM_002180.3(IGHMBP2):c.2828G>T (p.Arg943Ile)
NM_002180.3(IGHMBP2):c.305C>A (p.Ala102Asp)
NM_002180.3(IGHMBP2):c.387C>G (p.Asp129Glu)
NM_002180.3(IGHMBP2):c.475_477del (p.His159del)
NM_002180.3(IGHMBP2):c.4G>A (p.Ala2Thr) rs778232785
NM_002180.3(IGHMBP2):c.58G>A (p.Glu20Lys)
NM_002180.3(IGHMBP2):c.605T>C (p.Phe202Ser)
NM_002180.3(IGHMBP2):c.631A>G (p.Ile211Val)
NM_002180.3(IGHMBP2):c.703G>A (p.Gly235Ser)
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_002180.3(IGHMBP2):c.838C>G (p.Leu280Val)
NM_002180.3(IGHMBP2):c.845C>T (p.Ala282Val)
NM_002180.3(IGHMBP2):c.854C>T (p.Ala285Val)
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.894G>C (p.Lys298Asn)
NM_002180.3(IGHMBP2):c.912T>C (p.Phe304=)
NM_002180.3(IGHMBP2):c.913-5T>C

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