ClinVar Miner

List of variants reported as benign for Congenital generalized lipodystrophy type 1

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_006412.4(AGPAT2):c.*157C>T rs4880119 0.76858
NM_006412.4(AGPAT2):c.*442C>G rs6951 0.75286
NM_006412.4(AGPAT2):c.661+121T>C rs9411215 0.67675
NM_006412.4(AGPAT2):c.183-60G>C rs2236514 0.58981
NM_006412.4(AGPAT2):c.*517C>T rs10320 0.22742
NM_006412.4(AGPAT2):c.-67G>C rs146341067 0.06932
NM_006412.4(AGPAT2):c.*535C>T rs138670030 0.01906
NM_006412.4(AGPAT2):c.317-7C>T rs74584184 0.01776
NM_006412.4(AGPAT2):c.*239G>A rs56310643 0.01334
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119 0.01094
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_006412.4(AGPAT2):c.*79C>G rs112657922

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