ClinVar Miner

List of variants in gene combination BSCL2, HNRNPUL2-BSCL2 reported as benign for Berardinelli-Seip congenital lipodystrophy

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_001122955.3(BSCL2):c.486+11G>T rs72929434
NM_001122955.3(BSCL2):c.765+15C>T rs79586077
NM_032667.6(BSCL2):c.945A>G (p.Glu315=) rs6856

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