List of variants in gene AGPAT2 reported as not provided 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)	rs138994150	0.00103
NM_006412.4(AGPAT2):c.589-2A>G	rs116807569	0.00043
NM_006412.4(AGPAT2):c.492+1G>A	rs933422777	0.00003
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter)	rs104894093	0.00001
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn)	rs764260414	0.00001
NM_006412.4(AGPAT2):c.493-1G>C	rs606231168	0.00001
NM_006412.4(AGPAT2):c.182+1G>A	rs1057517650
NM_006412.4(AGPAT2):c.183-2A>G	rs1057517649
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter)	rs1057517651
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu)	rs886063722
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys)	rs748157664
NM_006412.4(AGPAT2):c.538del (p.Asp180fs)	rs1057517653
NM_006412.4(AGPAT2):c.661+2T>G	rs1057517654
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter)	rs1057517655
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly)	rs200656731
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del)	rs1057517656

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