ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) rs797045222
NM_006412.4(AGPAT2):c.589-2A>G rs116807569
NM_032667.6(BSCL2):c.750dup (p.Leu251fs) rs1554983076
NM_032667.6(BSCL2):c.782dup (p.Ile262fs) rs749890533
NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) rs137852974

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