ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
Download table as spreadsheet
HGVS dbSNP
BSCL2, 258-BP DEL/12-BP INS
BSCL2, IVS4, G-A, +1
NM_001012727.1(AGPAT2):c.366_492+910del1037
NM_001753.4(CAV1):c.112G>T (p.Glu38Ter) rs121434501
NM_006412.3(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093
NM_006412.3(AGPAT2):c.418_420del (p.Phe140del) rs387906356
NM_006412.3(AGPAT2):c.570C>A (p.Tyr190Ter) rs121908926
NM_006412.3(AGPAT2):c.589-2A>G rs116807569
NM_006412.3(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.3(AGPAT2):c.683T>C (p.Leu228Pro) rs104894100
NM_006412.4(AGPAT2):c.377dup (p.Pro128Alafs) rs387906355
NM_006412.4(AGPAT2):c.493-1G>C rs606231168
NM_032667.6(BSCL2):c.192_193delCCinsGGA (p.Ser64Argfs) rs786205068
NM_032667.6(BSCL2):c.301_302insAA (p.Met101Lysfs) rs786205069
NM_032667.6(BSCL2):c.315_316del (p.Tyr106Serfs) rs786205070
NM_032667.6(BSCL2):c.317_321del (p.Tyr106Cysfs) rs587777608
NM_032667.6(BSCL2):c.325dup (p.Thr109Asnfs) rs786205071
NM_032667.6(BSCL2):c.412C>T (p.Arg138Ter) rs137852970
NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) rs137852975
NM_032667.6(BSCL2):c.634G>C (p.Ala212Pro) rs137852971
NM_032667.6(BSCL2):c.636del (p.Tyr213Thrfs) rs758843908
NM_032667.6(BSCL2):c.671+5G>A rs786205072
NM_032667.6(BSCL2):c.672-3C>G rs786205073
NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) rs137852974

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.