ClinVar Miner

List of variants in gene IGHMBP2 reported as benign by GeneDx

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Gene type:
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Total variants: 65
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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.*255T>C rs564244 0.75917
NM_002180.3(IGHMBP2):c.1756+119C>G rs598255 0.75913
NM_002180.3(IGHMBP2):c.2785-243C>T rs665258 0.47225
NM_002180.3(IGHMBP2):c.2784+114T>G rs488792 0.47111
NM_002180.3(IGHMBP2):c.548-274C>T rs583182 0.30584
NM_002180.3(IGHMBP2):c.2784+54G>A rs4378405 0.26445
NM_002180.3(IGHMBP2):c.548-190G>T rs673821 0.24256
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.2612-123C>T rs3794031 0.22881
NM_002180.3(IGHMBP2):c.257-101G>C rs61887150 0.22424
NM_002180.3(IGHMBP2):c.2636C>A (p.Thr879Lys) rs17612126 0.22387
NM_002180.3(IGHMBP2):c.87-268A>T rs61887149 0.22321
NM_002180.3(IGHMBP2):c.2612-146G>T rs513615 0.22315
NM_002180.3(IGHMBP2):c.1419-145C>T rs2282504 0.22161
NM_002180.3(IGHMBP2):c.913-313G>A rs3829243 0.20672
NM_002180.3(IGHMBP2):c.2080C>T (p.Arg694Trp) rs2236654 0.20662
NM_002180.3(IGHMBP2):c.823A>G (p.Ile275Val) rs10896380 0.19067
NM_002180.3(IGHMBP2):c.712-287G>A rs12418618 0.18804
NM_002180.3(IGHMBP2):c.-2C>T rs4930624 0.18778
NM_002180.3(IGHMBP2):c.712-298T>G rs12420058 0.17587
NM_002180.3(IGHMBP2):c.450-72G>T rs10896378 0.17151
NM_002180.3(IGHMBP2):c.1235+148A>G rs79051613 0.06749
NM_002180.3(IGHMBP2):c.1418+18A>G rs112575423 0.06280
NM_002180.3(IGHMBP2):c.86+240C>T rs73522953 0.04810
NM_002180.3(IGHMBP2):c.912+236A>G rs144764889 0.04042
NM_002180.3(IGHMBP2):c.257-116C>T rs508049 0.04026
NM_002180.3(IGHMBP2):c.2611+239C>T rs73527341 0.01856
NM_002180.3(IGHMBP2):c.2611+299C>T rs77729566 0.01637
NM_002180.3(IGHMBP2):c.2611+273G>C rs145953567 0.01324
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.1757-18C>A rs77247855 0.00796
NM_002180.3(IGHMBP2):c.2782G>A (p.Glu928Lys) rs2275996 0.00707
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.1939G>A (p.Val647Ile) rs77822399 0.00494
NM_002180.3(IGHMBP2):c.1821C>T (p.His607=) rs34658653 0.00420
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.-28C>A rs117368938 0.00135
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_002180.3(IGHMBP2):c.2322A>G (p.Glu774=) rs11228414 0.00085
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.344C>T (p.Thr115Met) rs181657861 0.00046
NM_002180.3(IGHMBP2):c.366C>T (p.His122=) rs144401213 0.00019
NM_002180.3(IGHMBP2):c.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002180.3(IGHMBP2):c.1236-66G>C rs645436
NM_002180.3(IGHMBP2):c.1756+133T>C rs2154008783
NM_002180.3(IGHMBP2):c.2532G>A (p.Ala844=) rs2228207
NM_002180.3(IGHMBP2):c.257-132dup rs34242855
NM_002180.3(IGHMBP2):c.2785-154G>A rs569777
NM_002180.3(IGHMBP2):c.2785-67A>G rs568862
NM_002180.3(IGHMBP2):c.547+226_547+227dup rs770866695
NM_002180.3(IGHMBP2):c.547+227dup rs770866695
NM_002180.3(IGHMBP2):c.548-80dup rs529782776
NM_002180.3(IGHMBP2):c.726C>G (p.Ala242=) rs76690064

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