ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Laboratory of Metabolic Disorders,Peking University First Hospital

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_006412.4(AGPAT2):c.513del (p.Glu172fs) rs1564290914
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) rs1564290079
NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter) rs557044760
NM_032667.6(BSCL2):c.212+1G>T rs1565152616
NM_032667.6(BSCL2):c.545_546insCCG (p.Glu182delinsAspArg) rs747297291
NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs) rs1565144681

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