ClinVar Miner

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

Included ClinVar conditions (6):
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)
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.202C>T (p.Arg68Ter) rs104894093
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) rs764260414
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) rs797045222
NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del) rs387906356
NM_006412.4(AGPAT2):c.492+1G>A rs933422777
NM_006412.4(AGPAT2):c.493-1G>C rs606231168
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter) rs1057518714
NM_006412.4(AGPAT2):c.513del (p.Glu172fs) rs1564290914
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006412.4(AGPAT2):c.538del (p.Asp180fs) rs1057517653
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) rs121908926
NM_006412.4(AGPAT2):c.589-2A>G rs116807569
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) rs1564290079
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150
NM_006412.4(AGPAT2):c.661+2T>G rs1057517654
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter) rs1057517655
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) rs104894100
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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