ClinVar Miner

List of variants in gene IGHMBP2 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 86
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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.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.*565G>A rs935838633 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.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.857G>A (p.Arg286Gln) rs200566598 0.00008
NM_002180.3(IGHMBP2):c.*754G>A rs374679092 0.00007
NM_002180.3(IGHMBP2):c.1018G>A (p.Glu340Lys) rs750580259 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.*172C>T rs3750978 0.00004
NM_002180.3(IGHMBP2):c.*529C>T rs1373174966 0.00004
NM_002180.3(IGHMBP2):c.1340C>G (p.Ala447Gly) rs144240271 0.00004
NM_002180.3(IGHMBP2):c.217G>A (p.Gly73Arg) rs376644749 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.2784+7C>T rs58094037 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.-4G>A rs752980392 0.00002
NM_002180.3(IGHMBP2):c.1349G>A (p.Arg450His) rs771485988 0.00002
NM_002180.3(IGHMBP2):c.2224A>G (p.Met742Val) rs754473710 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.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.1874C>T (p.Thr625Ile) rs886048605 0.00001
NM_002180.3(IGHMBP2):c.2040G>A (p.Gln680=) rs886048606 0.00001
NM_002180.3(IGHMBP2):c.2194A>G (p.Met732Val) rs750717921 0.00001
NM_002180.3(IGHMBP2):c.2361G>A (p.Pro787=) rs187924099 0.00001
NM_002180.3(IGHMBP2):c.2667C>T (p.Ala889=) rs770556515 0.00001
NM_002180.3(IGHMBP2):c.2787C>G (p.Ile929Met) rs761854167 0.00001
NM_002180.3(IGHMBP2):c.381C>G (p.Ser127Arg) rs775782198 0.00001
NM_002180.3(IGHMBP2):c.547+9T>G rs886048603 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.*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.1637A>C (p.Asp546Ala) rs1566445036
NM_002180.3(IGHMBP2):c.1669C>G (p.Pro557Ala) rs7122089
NM_002180.3(IGHMBP2):c.1958A>C (p.His653Pro) rs1859530717
NM_002180.3(IGHMBP2):c.222C>A (p.Ser74=) rs139237340
NM_002180.3(IGHMBP2):c.2532G>T (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.2683A>G (p.Asn895Asp) rs886048607
NM_002180.3(IGHMBP2):c.2755C>A (p.Arg919Ser) rs145945230
NM_002180.3(IGHMBP2):c.2959C>T (p.Arg987Trp) rs1440519538
NM_002180.3(IGHMBP2):c.2975G>A (p.Gly992Glu) rs886048608
NM_002180.3(IGHMBP2):c.303G>A (p.Leu101=) rs1281690554
NM_002180.3(IGHMBP2):c.351C>T (p.Ala117=) rs1858280736
NM_002180.3(IGHMBP2):c.726C>A (p.Ala242=) rs76690064
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287
NM_002180.3(IGHMBP2):c.887T>C (p.Ile296Thr) rs375554721
NM_002180.3(IGHMBP2):c.912+4G>A rs758392980

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