ClinVar Miner

List of variants in gene GSDME reported as likely benign by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Gene type:
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Total variants: 14
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HGVS dbSNP gnomAD frequency
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.934G>A (p.Asp312Asn) rs148716975 0.00016
NM_001127453.2(GSDME):c.1179C>T (p.Leu393=) rs368035633 0.00007
NM_001127453.2(GSDME):c.687C>T (p.Asp229=) rs371054976 0.00003
NM_001127453.2(GSDME):c.1197C>T (p.Ser399=) rs778523430 0.00002
NM_001127453.2(GSDME):c.405-12T>C rs202246404 0.00002
NM_001127453.2(GSDME):c.1218T>C (p.Thr406=) rs727505338 0.00001
NM_001127453.2(GSDME):c.826T>C (p.Ser276Pro) rs727502954 0.00001
NM_001127453.2(GSDME):c.969A>G (p.Leu323=) rs397516911 0.00001
NM_004403.3(GSDME):c.862+10dup rs730880353 0.00001
NM_001127453.2(GSDME):c.1274ATG[1] (p.Asp426del) rs374353052
NM_001127453.2(GSDME):c.1416G>A (p.Lys472=) rs727504956
NM_001127453.2(GSDME):c.656A>G (p.Tyr219Cys) rs1554325967

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