ClinVar Miner

List of variants in gene IGHMBP2 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_002180.3(IGHMBP2):c.602T>C (p.Leu201Ser) rs560096 0.76511
NM_002180.3(IGHMBP2):c.57T>C (p.Leu19=) rs1249463 0.76080
NM_002180.3(IGHMBP2):c.2011A>G (p.Thr671Ala) rs622082 0.24183
NM_002180.3(IGHMBP2):c.2316C>T (p.Ser772=) rs546382 0.24174
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_002180.3(IGHMBP2):c.2439G>A (p.Ala813=) rs624147 0.01079
NM_002180.3(IGHMBP2):c.180C>T (p.Tyr60=) rs34617762 0.00959
NM_002180.3(IGHMBP2):c.223G>A (p.Ala75Thr) rs2228206 0.00946
NM_002180.3(IGHMBP2):c.256+9G>A rs118015540 0.00600
NM_002180.3(IGHMBP2):c.2025C>T (p.Thr675=) rs138396245 0.00580
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=) rs76707931 0.00520
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=) rs148157556 0.00517
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu) rs117061430 0.00506
NM_002180.3(IGHMBP2):c.1770T>C (p.Phe590=) rs138997061 0.00398
NM_002180.3(IGHMBP2):c.1294G>A (p.Ala432Thr) rs116012780 0.00392
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_002180.3(IGHMBP2):c.304G>T (p.Ala102Ser) rs35610053 0.00181
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002180.3(IGHMBP2):c.548-10T>G rs139207271 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.2026G>A (p.Gly676Arg) rs149577588 0.00041
NM_002180.3(IGHMBP2):c.2369G>A (p.Arg790Gln) rs147038490 0.00026
NM_002180.3(IGHMBP2):c.2618C>T (p.Pro873Leu) rs141903179 0.00022
NM_002180.3(IGHMBP2):c.1914G>A (p.Thr638=) rs139065967 0.00019
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter) rs145226920 0.00016
NM_002180.3(IGHMBP2):c.1060+10C>T rs200170825 0.00011
NM_002180.3(IGHMBP2):c.2691C>T (p.Cys897=) rs146286133 0.00008
NM_002180.3(IGHMBP2):c.2753G>A (p.Arg918His) rs368584364 0.00006
NM_002180.3(IGHMBP2):c.761G>A (p.Arg254His) rs761191746 0.00005
NM_002180.3(IGHMBP2):c.222C>T (p.Ser74=) rs139237340 0.00004
NM_002180.3(IGHMBP2):c.1071C>T (p.Ala357=) rs755300047 0.00002
NM_002180.3(IGHMBP2):c.2862C>T (p.Ser954=) rs377433281 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002180.3(IGHMBP2):c.1816C>T (p.Arg606Cys) rs536556753 0.00001
NM_002180.3(IGHMBP2):c.2260G>A (p.Asp754Asn) rs200499838 0.00001
NM_002180.3(IGHMBP2):c.393G>T (p.Glu131Asp) rs761440964 0.00001
NM_002180.3(IGHMBP2):c.925A>G (p.Lys309Glu) rs200079527 0.00001
NM_002180.3(IGHMBP2):c.10G>A (p.Ala4Thr) rs1333262915
NM_002180.3(IGHMBP2):c.2440C>A (p.Gln814Lys) rs1566447207
NM_002180.3(IGHMBP2):c.920A>G (p.Asn307Ser) rs1470463698

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