ClinVar Miner

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

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_001122955.3(BSCL2):c.133G>A (p.Gly45Ser) rs3763853
NM_032667.6(BSCL2):c.-133G>A rs112877243
NM_032667.6(BSCL2):c.294+11G>T rs72929434
NM_032667.6(BSCL2):c.573+15C>T rs79586077
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032667.6(BSCL2):c.945A>G (p.Glu315=) rs6856

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