List of variants in gene AGPAT2 reported as likely benign for Berardinelli-Seip congenital lipodystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=)	rs73668354	0.01383
NM_006412.4(AGPAT2):c.*236C>T	rs117979028	0.00572
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val)	rs145975461	0.00332
NM_006412.4(AGPAT2):c.493-17C>A	rs376439157	0.00303
NM_006412.4(AGPAT2):c.*510C>T	rs149296700	0.00293
NM_006412.4(AGPAT2):c.182+8C>T	rs199860398	0.00220
NM_006412.4(AGPAT2):c.*48T>C	rs200614462	0.00201
NM_006412.4(AGPAT2):c.182+6G>A	rs373540283	0.00178
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=)	rs117434864	0.00024
NM_006412.4(AGPAT2):c.408G>A (p.Gly136=)	rs145467496	0.00020
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=)	rs150180733	0.00019
NM_006412.4(AGPAT2):c.662-5C>G	rs199964729	0.00006
NM_006412.4(AGPAT2):c.24C>G (p.Ala8=)	rs987053838	0.00004
NM_006412.4(AGPAT2):c.273C>G (p.Pro91=)	rs548976674	0.00004
NM_006412.4(AGPAT2):c.*102C>T	rs144522710
NM_006412.4(AGPAT2):c.*230C>T	rs190437134
NM_006412.4(AGPAT2):c.*79C>G	rs112657922

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