ClinVar Miner

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

Submission 1 (likely benign) minimum review status: Submission 1 (likely benign) method:
Submission 2 (uncertain significance) minimum review status: Submission 2 (uncertain significance) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 23
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HGVS dbSNP gnomAD frequency
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.2545G>A (p.Ala849Thr) rs2228208 0.00157
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.2844G>A (p.Gly948=) rs147918962 0.00105
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.2360C>T (p.Pro787Leu) rs141594765 0.00053
NM_002180.3(IGHMBP2):c.165G>C (p.Gln55His) rs201692151 0.00044
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00029
NM_002180.3(IGHMBP2):c.103A>G (p.Ile35Val) rs199586231 0.00011
NM_002180.3(IGHMBP2):c.1295C>T (p.Ala432Val) rs370414354 0.00009
NM_002180.3(IGHMBP2):c.2668G>A (p.Ala890Thr) rs138607722 0.00006
NM_002180.3(IGHMBP2):c.2674A>G (p.Lys892Glu) rs201970407 0.00006
NM_002180.3(IGHMBP2):c.2619G>A (p.Pro873=) rs373001247 0.00005
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193 0.00005
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002180.3(IGHMBP2):c.1756+4C>T rs778913429 0.00003
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_002180.3(IGHMBP2):c.861C>G (p.Ser287Arg) rs564645287

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