ClinVar Miner

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

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_001122955.3(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.3(BSCL2):c.604C>T (p.Arg202Ter) rs137852970
NM_001122955.3(BSCL2):c.826G>C (p.Ala276Pro) rs137852971
NM_032667.6(BSCL2):c.154_155dup (p.Tyr53fs) rs1057517658
NM_032667.6(BSCL2):c.192_193delinsGGA (p.Ser64fs) rs786205068
NM_032667.6(BSCL2):c.193delinsGGA (p.Pro65fs) rs1057517659
NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter) rs557044760
NM_032667.6(BSCL2):c.212+1G>T rs1565152616
NM_032667.6(BSCL2):c.301_302insAA (p.Met101fs) rs786205069
NM_032667.6(BSCL2):c.315_316del (p.Tyr106fs) rs786205070
NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) rs587777608
NM_032667.6(BSCL2):c.325dup (p.Thr109fs) rs786205071
NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs) rs1565144681
NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) rs137852975
NM_032667.6(BSCL2):c.574-2A>G rs1013079991
NM_032667.6(BSCL2):c.584C>T (p.Thr195Ile) rs1565144468
NM_032667.6(BSCL2):c.636del (p.Tyr213fs) rs758843908
NM_032667.6(BSCL2):c.652_662del (p.Ala218fs) rs1064797076
NM_032667.6(BSCL2):c.671+5G>A rs786205072
NM_032667.6(BSCL2):c.672-2A>C rs766061024
NM_032667.6(BSCL2):c.672-2A>G rs766061024
NM_032667.6(BSCL2):c.672-3C>G rs786205073
NM_032667.6(BSCL2):c.750dup (p.Leu251fs) rs1554983076
NM_032667.6(BSCL2):c.782dup (p.Ile262fs) rs749890533
NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) rs587777606
NM_032667.6(BSCL2):c.814-2A>G rs879254029
NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) rs137852974

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