ClinVar Miner

List of variants reported as benign for Berardinelli-Seip congenital lipodystrophy

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.*157C>T rs4880119
NM_006412.4(AGPAT2):c.*442C>G rs6951
NM_006412.4(AGPAT2):c.*517C>T rs10320
NM_032667.6(BSCL2):c.294+11G>T rs72929434
NM_032667.6(BSCL2):c.573+15C>T rs79586077
NM_032667.6(BSCL2):c.945A>G (p.Glu315=) rs6856

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