ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_001122955.3(BSCL2):c.131G>A (p.Gly44Asp) rs769536524
NM_001122955.3(BSCL2):c.184C>T (p.Leu62Phe) rs756907468
NM_032667.6(BSCL2):c.*49T>G rs368144792
NM_032667.6(BSCL2):c.-140A>C rs886048443
NM_032667.6(BSCL2):c.1042+14T>G rs778380128
NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val)
NM_032667.6(BSCL2):c.232A>G (p.Thr78Ala) rs1565150951
NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) rs149412531
NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr) rs886048442
NM_032667.6(BSCL2):c.396C>T (p.Cys132=) rs369806785
NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser) rs10776
NM_032667.6(BSCL2):c.862A>G (p.Ile288Val) rs775718358

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