ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by GeneReviews

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 32
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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_001122955.4(BSCL2):c.864-2A>C rs766061024 0.00003
NM_006412.4(AGPAT2):c.492+1G>A rs933422777 0.00003
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
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_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs) rs1057517658
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) rs1057517659
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.766-2A>G rs1013079991
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864-2A>G rs766061024
NM_001122955.4(BSCL2):c.864-3C>G rs786205073
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
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.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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