ClinVar Miner

Variants in gene IGHMBP2 with conflicting interpretations "likely benign" and "benign"

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (benign) minimum review status: Submission 2 (benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 21
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HGVS dbSNP gnomAD frequency
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.1235+38C>T rs150602837 0.00863
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.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.2091G>A (p.Pro697=) rs113615425 0.00247
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_002180.3(IGHMBP2):c.362C>T (p.Ser121Phe) rs2228205 0.00220
NM_002180.3(IGHMBP2):c.132C>T (p.Gly44=) rs78807992 0.00130
NM_002180.3(IGHMBP2):c.2730C>G (p.Gly910=) rs139416105 0.00128
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
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.1827G>A (p.Ala609=) rs541245852 0.00003
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002

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