ClinVar Miner

Variants in gene GSDME 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: 14
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HGVS dbSNP gnomAD frequency
NM_001127453.2(GSDME):c.577-15C>T rs11970787 0.00666
NM_001127453.2(GSDME):c.1183+17A>G rs73288039 0.00424
NM_004403.3(GSDME):c.521T>C (p.Met174Thr) rs876306 0.00242
NM_004403.3(GSDME):c.823A>G (p.Ile275Val) rs149956122 0.00067
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro) rs199971778 0.00036
NM_001127453.2(GSDME):c.212-17C>T rs139651644 0.00027
NM_001127453.2(GSDME):c.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001127453.2(GSDME):c.1183+9A>T rs397516910 0.00014
NM_001127453.2(GSDME):c.697+17A>G rs373208272 0.00014
NM_001127453.2(GSDME):c.87T>A (p.Asp29Glu) rs148370267 0.00010
NM_001127453.2(GSDME):c.587C>T (p.Thr196Met) rs183361282 0.00005
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_004403.3(GSDME):c.119dup (p.Lys41fs) rs758488919

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