List of variants reported as benign for Berardinelli-Seip congenital lipodystrophy by Illumina Laboratory Services, Illumina

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Total variants: 18

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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.*517C>T	rs10320	0.22742
NM_001122955.4(BSCL2):c.486+11G>T	rs72929434	0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=)	rs6856	0.16571
NM_006412.4(AGPAT2):c.-67G>C	rs146341067	0.06932
NM_001122955.4(BSCL2):c.765+15C>T	rs79586077	0.03596
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_001122955.4(BSCL2):c.845C>T (p.Ala282Val)	rs185341934	0.00096
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)	rs117434864	0.00024
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser)	rs3763853	0.00014
NM_001122955.4(BSCL2):c.88-613G>A	rs112877243
NM_006412.4(AGPAT2):c.*79C>G	rs112657922

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