ClinVar Miner

List of variants reported as benign for Congenital generalized lipodystrophy type 1 by Illumina Clinical Services Laboratory,Illumina

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Total variants: 12
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HGVS dbSNP
NM_006412.4(AGPAT2):c.*157C>T rs4880119
NM_006412.4(AGPAT2):c.*239G>A rs56310643
NM_006412.4(AGPAT2):c.*442C>G rs6951
NM_006412.4(AGPAT2):c.*517C>T rs10320
NM_006412.4(AGPAT2):c.*535C>T rs138670030
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.-67G>C rs146341067
NM_006412.4(AGPAT2):c.317-7C>T rs74584184
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583

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