List of variants in gene AGPAT2 reported as likely pathogenic for Congenital generalized lipodystrophy type 1

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	rs138994150	0.00094
NM_006412.4(AGPAT2):c.493-1G>C	rs606231168	0.00001
NM_006412.4(AGPAT2):c.493-2A>G	rs763254660	0.00001
NM_006412.4(AGPAT2):c.662-2A>C	rs1131691791	0.00001
NM_006412.4(AGPAT2):c.158del (p.Gly53fs)	rs2131023674
NM_006412.4(AGPAT2):c.242_245del (p.Arg81fs)
NM_006412.4(AGPAT2):c.254_258dup (p.Gln87fs)	rs2490701553
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)	rs1588263957
NM_006412.4(AGPAT2):c.34del (p.Leu12fs)
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter)	rs1255380257
NM_006412.4(AGPAT2):c.769del (p.Leu257fs)

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