ClinVar Miner

List of variants reported as pathogenic for Berardinelli-Seip congenital lipodystrophy by GeneReviews

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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HGVS dbSNP
NM_001122955.3(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.3(BSCL2):c.604C>T (p.Arg202Ter) rs137852970
NM_001122955.3(BSCL2):c.826G>C (p.Ala276Pro) rs137852971
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.492+1G>A rs933422777
NM_006412.4(AGPAT2):c.493-1G>C rs606231168
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006412.4(AGPAT2):c.538del (p.Asp180fs) rs1057517653
NM_006412.4(AGPAT2):c.589-2A>G rs116807569
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.713C>G (p.Ala238Gly) rs200656731
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del) rs1057517656
NM_032667.6(BSCL2):c.154_155dup (p.Tyr53fs) rs1057517658
NM_032667.6(BSCL2):c.193delinsGGA (p.Pro65fs) rs1057517659
NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) rs587777608
NM_032667.6(BSCL2):c.325dup (p.Thr109fs) rs786205071
NM_032667.6(BSCL2):c.574-2A>G rs1013079991
NM_032667.6(BSCL2):c.671+5G>A rs786205072
NM_032667.6(BSCL2):c.672-2A>C rs766061024
NM_032667.6(BSCL2):c.672-2A>G rs766061024
NM_032667.6(BSCL2):c.672-3C>G rs786205073
NM_032667.6(BSCL2):c.782dup (p.Ile262fs) rs749890533
NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) rs587777606
NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) rs137852974

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